20-34143952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34143952
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34143952
    reference: chr 20
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.856-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.860-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.819-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.726-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.815-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.161-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.88-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.317-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.830-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.373-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.830-26T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.36-26T>C
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34143964-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34143964
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34143963
    reference: chr 20
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.161-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.88-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.726-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.373-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.860-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.830-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.830-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.36-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.815-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.819-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.856-13delG
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.317-13delG
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: TG
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-34143967-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34143967
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34143967
    reference: chr 20
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.860-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.317-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.36-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.726-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.856-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.88-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.373-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.830-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.819-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.830-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.161-11T>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.815-11T>G
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

20-34143978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34143978
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34143978
    reference: chr 20
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.815C>T
  hgvsp: ENSP00000341358.2:p.Ala272Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.860C>T
  hgvsp: ENSP00000392341.1:p.Ala287Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.88C>T
  hgvsp: ENSP00000408840.1:p.Ala30Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.317C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.726C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.36C>T
  hgvsp: ENSP00000416402.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.830C>T
  hgvsp: ENSP00000279052.6:p.Ala277Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.161C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.856C>T
  hgvsp: ENSP00000399124.1:p.Ala286Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.830C>T
  hgvsp: ENSP00000349970.4:p.Ala277Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.373C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.819C>T
  hgvsp: ENSP00000402480.1:p.Ala274Val
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala277Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

20-34144001-G-GTGAAGGTGGTGCCCACTGTGTACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144001
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144025
    reference: chr 20
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: GTGAAGGTGGTGCCCACTGTGTACA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsp: ENSP00000392341.1:p.Val298_Val305dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsp: ENSP00000279052.6:p.Val288_Val295dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsp: ENSP00000399124.1:p.Val297_Val304dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsp: ENSP00000341358.2:p.Val283_Val290dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsp: ENSP00000349970.4:p.Val288_Val295dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsp: ENSP00000408840.1:p.Val41_Val48dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsp: ENSP00000402480.1:p.Val285_Val292dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsp: ENSP00000416402.1:p.Val24_Val31dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val288_Val295dup
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-34144004-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144004
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144004
    reference: chr 20
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.62A>C
  hgvsp: ENSP00000416402.1:p.Lys22Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.114A>C
  hgvsp: ENSP00000408840.1:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.882A>C
  hgvsp: ENSP00000399124.1:p.Lys295Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.841A>C
  hgvsp: ENSP00000341358.2:p.Lys281Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.187A>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.752A>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.886A>C
  hgvsp: ENSP00000392341.1:p.Lys296Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.845A>C
  hgvsp: ENSP00000402480.1:p.Lys283Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.856A>C
  hgvsp: ENSP00000279052.6:p.Lys286Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.343A>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.399A>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.856A>C
  hgvsp: ENSP00000349970.4:p.Lys286Gln
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys286Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

20-34144007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144007
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144007
    reference: chr 20
allele count: 6
allele frequency: 4.959579427664534e-5
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.859G>C
  hgvsp: ENSP00000279052.6:p.Val287Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.844G>C
  hgvsp: ENSP00000341358.2:p.Val282Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.65G>C
  hgvsp: ENSP00000416402.1:p.Val23Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.117G>C
  hgvsp: ENSP00000408840.1:p.Val40Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.402G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.190G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.848G>C
  hgvsp: ENSP00000402480.1:p.Val284Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.885G>C
  hgvsp: ENSP00000399124.1:p.Val296Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.859G>C
  hgvsp: ENSP00000349970.4:p.Val287Leu
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.346G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.755G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.889G>C
  hgvsp: ENSP00000392341.1:p.Val297Leu
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val287Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

20-34144009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144009
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144009
    reference: chr 20
allele count: 11
allele frequency: 9.093915343915344e-5
allele num: 120960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.891G>A
  hgvsp: ENST00000447986.1:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.850G>A
  hgvsp: ENST00000413587.1:c.850G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.119G>A
  hgvsp: ENST00000442139.1:c.119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.861G>A
  hgvsp: ENST00000357394.4:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.757G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.861G>A
  hgvsp: ENST00000279052.6:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.348G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.846G>A
  hgvsp: ENST00000348547.2:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.887G>A
  hgvsp: ENST00000416206.1:c.887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.404G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.67G>A
  hgvsp: ENST00000451605.1:c.67G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.192G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val287Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

20-34144010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144010
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144010
    reference: chr 20
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.193G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.405G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.68G>A
  hgvsp: ENSP00000416402.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.847G>A
  hgvsp: ENSP00000341358.2:p.Val283Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.851G>A
  hgvsp: ENSP00000402480.1:p.Val285Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.862G>A
  hgvsp: ENSP00000279052.6:p.Val288Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.120G>A
  hgvsp: ENSP00000408840.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.349G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.888G>A
  hgvsp: ENSP00000399124.1:p.Val297Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.862G>A
  hgvsp: ENSP00000349970.4:p.Val288Met
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.758G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.892G>A
  hgvsp: ENSP00000392341.1:p.Val298Met
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val288Met
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

20-34144012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144012
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144012
    reference: chr 20
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.890G>A
  hgvsp: ENST00000416206.1:c.890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.894G>A
  hgvsp: ENST00000447986.1:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.849G>A
  hgvsp: ENST00000348547.2:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.70G>A
  hgvsp: ENST00000451605.1:c.70G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.853G>A
  hgvsp: ENST00000413587.1:c.853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.864G>A
  hgvsp: ENST00000279052.6:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.122G>A
  hgvsp: ENST00000442139.1:c.122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.195G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000496172
  gene symbol: ERGIC3
  hgvsc: ENST00000496172.1:n.760G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.864G>A
  hgvsp: ENST00000357394.4:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.351G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.407G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val288Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34144036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144036
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144036
    reference: chr 20
allele count: 6
allele frequency: 4.973969559306297e-5
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.375C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.877C>T
  hgvsp: ENST00000413587.1:c.877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.888C>T
  hgvsp: ENST00000279052.6:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.146C>T
  hgvsp: ENST00000442139.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.914C>T
  hgvsp: ENST00000416206.1:c.914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.94C>T
  hgvsp: ENST00000451605.1:c.94C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.873C>T
  hgvsp: ENST00000348547.2:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.918C>T
  hgvsp: ENST00000447986.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.431C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.888C>T
  hgvsp: ENST00000357394.4:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.219C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp296Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

20-34144037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144037
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144037
    reference: chr 20
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.874G>A
  hgvsp: ENSP00000341358.2:p.Gly292Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.878G>A
  hgvsp: ENSP00000402480.1:p.Gly294Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.915G>A
  hgvsp: ENSP00000399124.1:p.Gly306Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.95G>A
  hgvsp: ENSP00000416402.1:p.Gly33Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.919G>A
  hgvsp: ENSP00000392341.1:p.Gly307Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.889G>A
  hgvsp: ENSP00000279052.6:p.Gly297Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.376G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.432G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.147G>A
  hgvsp: ENSP00000408840.1:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.889G>A
  hgvsp: ENSP00000349970.4:p.Gly297Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.220G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly297Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

20-34144040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144040
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144040
    reference: chr 20
allele count: 3
allele frequency: 2.487438435898711e-5
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.918G>A
  hgvsp: ENSP00000399124.1:p.Glu307Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.223G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.877G>A
  hgvsp: ENSP00000341358.2:p.Glu293Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.892G>A
  hgvsp: ENSP00000279052.6:p.Glu298Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.881G>A
  hgvsp: ENSP00000402480.1:p.Glu295Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.150G>A
  hgvsp: ENSP00000408840.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.922G>A
  hgvsp: ENSP00000392341.1:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.892G>A
  hgvsp: ENSP00000349970.4:p.Glu298Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.98G>A
  hgvsp: ENSP00000416402.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.435G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.379G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu298Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

20-34144040-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144040
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144040
    reference: chr 20
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.98G>C
  hgvsp: ENSP00000416402.1:p.Glu34Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.881G>C
  hgvsp: ENSP00000402480.1:p.Glu295Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.223G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.379G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.892G>C
  hgvsp: ENSP00000349970.4:p.Glu298Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.918G>C
  hgvsp: ENSP00000399124.1:p.Glu307Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.150G>C
  hgvsp: ENSP00000408840.1:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.877G>C
  hgvsp: ENSP00000341358.2:p.Glu293Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.892G>C
  hgvsp: ENSP00000279052.6:p.Glu298Gln
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.435G>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.922G>C
  hgvsp: ENSP00000392341.1:p.Glu308Gln
  variant of: http://identifiers.org/hgnc/15927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu298Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

20-34144064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144064
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144064
    reference: chr 20
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.247C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.459C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+22C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+22C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

20-34144070-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144070
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144070
    reference: chr 20
allele count: 2
allele frequency: 1.662399840409615e-5
allele num: 120308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.253C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.465C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+28C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+28C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-34144072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144072
    reference: chr 20
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.467C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.255C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+30C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+30C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

20-34144076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144076
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144076
    reference: chr 20
allele count: 6
allele frequency: 4.98960498960499e-5
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.259C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.471C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+34C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34144077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144077
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144077
    reference: chr 20
allele count: 2
allele frequency: 1.663672056964131e-5
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.260G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.472G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+35G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+35G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15630
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

20-34144078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144078
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144078
    reference: chr 20
allele count: 6
allele frequency: 4.990933138132393e-5
allele num: 120218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.261C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.473C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+36C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+36C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

20-34144079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144079
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144079
    reference: chr 20
allele count: 2
allele frequency: 1.663921196692125e-5
allele num: 120198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.474G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.262G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+37G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+37G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34144089-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144089
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144088
    reference: chr 20
allele count: 3
allele frequency: 2.498459283441878e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.485delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.273delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+48delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+48delC
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9407
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: AC
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

20-34144095-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144095
    reference: chr 20
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.278G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.490G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+53G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+53G>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

20-34144097-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144097
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144096
    reference: chr 20
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.494delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.282delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+57delC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+57delC
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: TC
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

20-34144098-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144098
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144098
    reference: chr 20
allele count: 3
allele frequency: 2.502293769288514e-5
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.281C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.493C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+56C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+56C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

20-34144103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144103
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144103
    reference: chr 20
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.286A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.498A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+61A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+61A>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34144107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144107
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144107
    reference: chr 20
allele count: 119258
allele frequency: 9.958914405010438e-1
allele num: 119750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.502T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.290T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+65T>C
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+65T>C
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.25e1
  variant carriers: 6799
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 6.25e1
  variant carriers: 1739
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 547
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 642
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 2639
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 5109
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 679
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 1045
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 2392
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.75e1
  variant carriers: 8769
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 3.25e1
  variant carriers: 9300
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 1329
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 2.75e1
  variant carriers: 8034
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.25e1
  variant carriers: 3344
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1005
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 1562
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 4.75e1
  variant carriers: 4867
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 306
num of homozygotes: 59384
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

20-34144108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144108
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144108
    reference: chr 20
allele count: 522
allele frequency: 4.711276376829907e-3
allele num: 110798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.291G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.503G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+66G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+66G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 26495
  bin: 2.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 3.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 10
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

20-34144112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144112
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144112
    reference: chr 20
allele count: 3
allele frequency: 2.777469170092212e-5
allele num: 108012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.295C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.507C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+70C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+70C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-34144113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144113
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144113
    reference: chr 20
allele count: 2
allele frequency: 1.870102668636508e-5
allele num: 106946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.296G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.508G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+71G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34144117-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144117
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144117
    reference: chr 20
allele count: 1
allele frequency: 9.527075949849473e-6
allele num: 104964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.512G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+75G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.300G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+75G>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS

20-34144139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144139
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144139
    reference: chr 20
allele count: 3
allele frequency: 3.641837428377197e-5
allele num: 82376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.534C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.322C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+97C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+97C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

20-34144140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144140
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144140
    reference: chr 20
allele count: 29
allele frequency: 3.650829619558375e-4
allele num: 79434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.323G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.535G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+98G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+98G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15460
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-34144145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144145
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144145
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 74940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.328C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+103C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.540C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+103C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

20-34144148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144148
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144148
    reference: chr 20
allele count: 1
allele frequency: 1.405441870924219e-5
allele num: 71152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.543A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.331A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+106A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+106A>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34144163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144163
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144163
    reference: chr 20
allele count: 1
allele frequency: 1.763295246156016e-5
allele num: 56712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.346C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.558C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+121C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+121C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

20-34144165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144165
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144165
    reference: chr 20
allele count: 2
allele frequency: 3.997601439136518e-5
allele num: 50030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.348G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.560G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15843
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

20-34144167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144167
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144167
    reference: chr 20
allele count: 1
allele frequency: 2.000480115227655e-5
allele num: 49988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.562G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.350G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+125G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+125G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

20-34144170-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144170
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144170
    reference: chr 20
allele count: 1
allele frequency: 2.031446796408402e-5
allele num: 49226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.353A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+128A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.565A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+128A>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

20-34144179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144179
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144179
    reference: chr 20
allele count: 1
allele frequency: 2.278630998496103e-5
allele num: 43886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.894+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.894+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.381+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.152+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.920+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.100+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.879+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000475211
  gene symbol: ERGIC3
  hgvsc: ENST00000475211.1:n.362G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.924+137G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000482338
  gene symbol: ERGIC3
  hgvsc: ENST00000482338.1:n.574G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.883+137G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34144616-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144616
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144617
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 17870
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-31dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-127dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.170+98dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-109dupC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.237dupC
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27203
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

20-34144621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144621
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144621
    reference: chr 20
allele count: 28
allele frequency: 1.447776628748707e-3
allele num: 19340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.241G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-27G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-123G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.170+102G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-105G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 29883
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

20-34144624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144624
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144624
    reference: chr 20
allele count: 1
allele frequency: 4.962286621675268e-5
allele num: 20152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.170+105G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-24G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.244G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-120G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-102G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

20-34144629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144629
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144629
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 21266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-19C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.249C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-115C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-97C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.170+110C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33534
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

20-34144631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144631
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144631
    reference: chr 20
allele count: 1
allele frequency: 4.516711833785005e-5
allele num: 22140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-95C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.251C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-17C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.170+112C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-113C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-113C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

20-34144636-T-TAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144636
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144638
    reference: chr 20
allele count: 9
allele frequency: 3.640187671897751e-4
allele num: 24724
alternate allele: TAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-9_153-8dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-105_895-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-105_171-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-105_382-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-105_925-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-105_884-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-87_101-86dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.259_260dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-105_880-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-105_895-104dupAC
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-105_921-104dupAC
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36112
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

20-34144640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144640
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144640
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 26832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-86C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.260C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-8C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-104C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-104C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36979
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
hgvs: c.153-8C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-34144641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144641
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144641
    reference: chr 20
allele count: 1
allele frequency: 3.504099796762212e-5
allele num: 28538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-85G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-7G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.261G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-103G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-103G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
hgvs: c.153-7G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

20-34144643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144643
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144643
    reference: chr 20
allele count: 1
allele frequency: 3.227055634439137e-5
allele num: 30988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.263C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-83C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-5C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-101C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-101C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35470
  bin: 2.25e1
  variant carriers: 0
hgvs: c.153-5C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

20-34144647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144647
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144647
    reference: chr 20
allele count: 1
allele frequency: 2.896703551358554e-5
allele num: 34522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.153-1G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-79G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.267G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-97G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-97G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37073
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7293
  bin: 6.25e1
  variant carriers: 0
hgvs: c.153-1G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

20-34144651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144651
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144651
    reference: chr 20
allele count: 2
allele frequency: 5.224933382099378e-5
allele num: 38278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.271C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-75C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.156C>T
  hgvsp: ENSP00000408840.1:p.Gln53Ter
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-93C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-93C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln53Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-34144652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144652
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144652
    reference: chr 20
allele count: 1
allele frequency: 2.518003726645515e-5
allele num: 39714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.157A>G
  hgvsp: ENSP00000408840.1:p.Gln53Arg
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.272A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-92A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-74A>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln53Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-34144658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144658
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144658
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 45252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.163A>G
  hgvsp: ENSP00000408840.1:p.Glu55Gly
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-68A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.278A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-86A>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-86A>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34634
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu55Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

20-34144665-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144665
    reference: chr 20
allele count: 3
allele frequency: 5.787037037037037e-5
allele num: 51840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.170A>T
  hgvsp: ENST00000442139.1:c.170A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-61A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.285A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-79A>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-79A>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32319
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly57Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-34144668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144668
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144668
    reference: chr 20
allele count: 1
allele frequency: 1.827485380116959e-5
allele num: 54720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.173G>A
  hgvsp: ENST00000442139.1:c.173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.288G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-58G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-76G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-76G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg58Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

20-34144673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144673
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144673
    reference: chr 20
allele count: 1
allele frequency: 1.644358206991811e-5
allele num: 60814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.178G>A
  hgvsp: ENSP00000408840.1:p.Arg60Lys
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-53G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-71G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.293G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg60Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

20-34144676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144676
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144676
    reference: chr 20
allele count: 1
allele frequency: 1.562548829650927e-5
allele num: 63998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.296G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.181G>A
  hgvsp: ENSP00000408840.1:p.Gly61Asp
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-50G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-68G>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-68G>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17807
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly61Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

20-34144676-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144676
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144676
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 63998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.181G>T
  hgvsp: ENSP00000408840.1:p.Gly61Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.296G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-68G>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-50G>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27396
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly61Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS

20-34144703-T-TCCTAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144703
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144709
    reference: chr 20
allele count: 1
allele frequency: 1.046375355767621e-5
allele num: 95568
alternate allele: TCCTAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-31_921-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-13_101-8dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-31_884-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-31_925-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-31_895-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-31_895-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.333_338dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.218_223dupAGCCCT
  hgvsp: ENSP00000408840.1:p.Ala74_Leu75dup
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-31_171-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-31_880-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-31_382-26dupAGCCCT
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala74_Leu75dup
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

20-34144709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144709
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144709
    reference: chr 20
allele count: 1
allele frequency: 9.962342345932375e-6
allele num: 100378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.214C>T
  hgvsp: ENSP00000408840.1:p.Ala72Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-17C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-35C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.329C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-35C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala72Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34144710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144710
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144710
    reference: chr 20
allele count: 1
allele frequency: 9.854158454867955e-6
allele num: 101480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.330C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-16C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.215C>T
  hgvsp: ENST00000442139.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-34C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-34C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala72Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

20-34144711-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144711
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144711
    reference: chr 20
allele count: 1
allele frequency: 9.785884839707207e-6
allele num: 102188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-15C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.331C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.216C>G
  hgvsp: ENSP00000408840.1:p.Leu73Val
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-33C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-33C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu73Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

20-34144715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144715
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144715
    reference: chr 20
allele count: 2
allele frequency: 1.904362895393346e-5
allele num: 105022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.335C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.220C>G
  hgvsp: ENSP00000408840.1:p.Ala74Gly
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-29C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-11C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala74Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS

20-34144716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144716
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144716
    reference: chr 20
allele count: 1
allele frequency: 9.455013047918006e-6
allele num: 105764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.336C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.221C>T
  hgvsp: ENST00000442139.1:c.221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-10C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-28C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-28C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35939
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala74Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

20-34144721-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144721
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144721
    reference: chr 20
allele count: 1
allele frequency: 9.24129008409574e-6
allele num: 108210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.341C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-5C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.226C>G
  hgvsp: ENSP00000408840.1:p.Ala76Gly
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-23C>G
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-23C>G
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala76Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-34144723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144723
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144723
    reference: chr 20
allele count: 3
allele frequency: 2.74233061537899e-5
allele num: 109396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.101-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.343C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.228C>T
  hgvsp: ENSP00000408840.1:p.Gln77Ter
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-21C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-21C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln77Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/20-34144732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144732
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144732
    reference: chr 20
allele count: 3
allele frequency: 2.645409333004127e-5
allele num: 113404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.107C>A
  hgvsp: ENSP00000416402.1:p.Leu37Ile
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.352C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.237C>A
  hgvsp: ENSP00000408840.1:p.Leu80Ile
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-12C>A
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-12C>A
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38259
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu37Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

20-34144741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34144741
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34144741
    reference: chr 20
allele count: 1
allele frequency: 8.629616845012081e-6
allele num: 115880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000408840
  ensembl transcript: ENST00000442139
  gene symbol: ERGIC3
  hgvsc: ENST00000442139.1:c.246C>T
  hgvsp: ENSP00000408840.1:p.Gln83Ter
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000399124
  ensembl transcript: ENST00000416206
  gene symbol: ERGIC3
  hgvsc: ENST00000416206.1:c.921-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000465298
  gene symbol: ERGIC3
  hgvsc: ENST00000465298.1:n.382-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000279052
  ensembl transcript: ENST00000279052
  gene symbol: ERGIC3
  hgvsc: ENST00000279052.6:c.895-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000349970
  ensembl transcript: ENST00000357394
  gene symbol: ERGIC3
  hgvsc: ENST00000357394.4:c.895-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488935
  gene symbol: ERGIC3
  hgvsc: ENST00000488935.1:n.171-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000416402
  ensembl transcript: ENST00000451605
  gene symbol: ERGIC3
  hgvsc: ENST00000451605.1:c.116C>T
  hgvsp: ENSP00000416402.1:p.Gln40Ter
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000392341
  ensembl transcript: ENST00000447986
  gene symbol: ERGIC3
  hgvsc: ENST00000447986.1:c.925-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000341358
  ensembl transcript: ENST00000348547
  gene symbol: ERGIC3
  hgvsc: ENST00000348547.2:c.880-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125991
  ensembl protein: ENSP00000402480
  ensembl transcript: ENST00000413587
  gene symbol: ERGIC3
  hgvsc: ENST00000413587.1:c.884-3C>T
  variant of: http://identifiers.org/hgnc/15927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125991
  ensembl transcript: ENST00000488384
  gene symbol: ERGIC3
  hgvsc: ENST00000488384.1:n.361C>T
  variant of: http://identifiers.org/hgnc/15927
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln83Ter
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 351
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5362
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15678
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8018
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
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: 908
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 2.366151e6

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeDepth
all individuals: 5072
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.748e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.999e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.365584e6

GenotypeDepth
all individuals: 7327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.939e0

FS
type: SiteQuality
SIO_000300: 1.5273e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

DP
type: SiteQuality
SIO_000300: 2.365393e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

GenotypeDepth
all individuals: 12922
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2066
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15677
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8010
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.532e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
type: SiteQuality
SIO_000300: 2.364945e6

QD
type: SiteQuality
SIO_000300: 8.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

GenotypeQuality
all individuals: 15678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.272e1

DP
type: SiteQuality
SIO_000300: 2.360918e6

FS
type: SiteQuality
SIO_000300: 1.1117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 2.87e0

GenotypeDepth
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5354
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
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: 906
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.361001e6

FS
type: SiteQuality
SIO_000300: 6.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -1.876e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

GenotypeDepth
all individuals: 2066
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 632
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

East Asian
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allele frequency: 5.791058605513088e-4
allele num: 8634
num of homozygotes: 0

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

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

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

QD
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SIO_000300: 1.28e1

VQSLOD
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MQ
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.63e-1

ReadPosRankSum
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SIO_000300: 1.57e0

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

Latino
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allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66500
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 8.7497569511958e-4
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ClippingRankSum
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SIO_000300: -2.21e-1

BaseQRankSum
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SIO_000300: -2.433e0

FS
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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SIO_000300: 5.922e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

East Asian
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.773e0

VQSLOD
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SIO_000300: -7.78e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

South Asian
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VQSLOD
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MQ
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SIO_000300: 5.989e1

ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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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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GenotypeQuality
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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: 6612
num of homozygotes: 0

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

African
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Latino
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allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

Other
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South Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.015499668295036e-5
allele num: 66324
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DP
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 66318
num of homozygotes: 0

Latino
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South Asian
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Other
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African
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East Asian
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European (Finnish)
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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African
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South Asian
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FS
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DP
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.354758e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 1.338e0

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 3574
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.087e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 2.350539e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.849e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.03030303030303e-4
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.488e1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

FS
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 2.347478e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 2.345896e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.562e1

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 15634
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.649000464900046e-4
allele num: 8604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 2.342663e6

FS
type: SiteQuality
SIO_000300: 1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 3353
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2222
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variant carriers: 0

GenotypeQuality
all individuals: 5311
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027917398413371e-5
allele num: 66052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.338894e6

BaseQRankSum
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SIO_000300: -3.265e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

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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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.055101422948835e-5
allele num: 66060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 3.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 2.338597e6

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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GenotypeQuality
all individuals: 4634
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513958699206686e-5
allele num: 66052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.967e0

QD
type: SiteQuality
SIO_000300: 3.039e1

VQSLOD
type: SiteQuality
SIO_000300: -2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 2.338031e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

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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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.546970202188609e-5
allele num: 65978
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.607e1

FS
type: SiteQuality
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MQRankSum
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SIO_000300: -8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.035e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

DP
type: SiteQuality
SIO_000300: 2.316555e6

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

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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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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SIO_000300: -2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.912e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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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GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
SIO_000300: 2.289472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554425383330803e-5
allele num: 65870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

DP
type: SiteQuality
SIO_000300: 2.2891e6

QD
type: SiteQuality
SIO_000300: 1.524e1

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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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.272247e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 285

GenotypeQuality
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variant carriers: 733

GenotypeQuality
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variant carriers: 1311

GenotypeQuality
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variant carriers: 3649

GenotypeQuality
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variant carriers: 328

GenotypeQuality
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variant carriers: 80

GenotypeQuality
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variant carriers: 39310

GenotypeQuality
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GenotypeQuality
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variant carriers: 1201

GenotypeQuality
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variant carriers: 3338

GenotypeQuality
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GenotypeQuality
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variant carriers: 452

GenotypeQuality
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variant carriers: 1636

GenotypeQuality
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variant carriers: 1844

GenotypeQuality
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variant carriers: 227

GenotypeQuality
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variant carriers: 753

GenotypeQuality
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variant carriers: 2200

GenotypeQuality
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variant carriers: 2794

African
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allele count: 10089
allele frequency: 9.991087344028521e-1
allele num: 10098
num of homozygotes: 5040

European (Non-Finnish)
type: Population
allele count: 65364
allele frequency: 9.93796752417442e-1
allele num: 65772
num of homozygotes: 32479

East Asian
type: Population
allele count: 8553
allele frequency: 9.998830956277764e-1
allele num: 8554
num of homozygotes: 4276

South Asian
type: Population
allele count: 16383
allele frequency: 9.97503653190453e-1
allele num: 16424
num of homozygotes: 8171

Other
type: Population
allele count: 892
allele frequency: 9.933184855233853e-1
allele num: 898
num of homozygotes: 443

European (Finnish)
type: Population
allele count: 6562
allele frequency: 9.975676497415628e-1
allele num: 6578
num of homozygotes: 3273

Latino
type: Population
allele count: 11415
allele frequency: 9.990372833887625e-1
allele num: 11426
num of homozygotes: 5702

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

QD
type: SiteQuality
SIO_000300: 3.375e1

DP
type: SiteQuality
SIO_000300: 2.459633e6

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

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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GenotypeQuality
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GenotypeQuality
all individuals: 1489
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variant carriers: 504

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.700532049657968e-4
allele num: 15788
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 2.085402184707051e-3
allele num: 10070
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.64963503649635e-3
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.641658731982795e-4
allele num: 60914
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.843197540353574e-4
allele num: 7806
num of homozygotes: 0

African
type: Population
allele count: 476
allele frequency: 5.043441407077771e-2
allele num: 9438
num of homozygotes: 10

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
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SIO_000300: 2.39e-2

DP
type: SiteQuality
SIO_000300: 1.487132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
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allele count: 1
allele frequency: 1.085776330076004e-4
allele num: 9210
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.363492650768558e-5
allele num: 59462
num of homozygotes: 0

QD
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
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SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 1.416372e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.05708245243129e-4
allele num: 9460
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 15478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.69940860580518e-5
allele num: 58844
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.404e0

FS
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InbreedingCoeff
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SIO_000300: -2.9e-3

MQRankSum
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SIO_000300: 1.67e-1

VQSLOD
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DP
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SIO_000300: 1.390649e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.63e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732681844959629e-5
allele num: 57714
num of homozygotes: 0

East Asian
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
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SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.876e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
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SIO_000300: -3.0e-3

DP
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SIO_000300: 1.34556e6

MQRankSum
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SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.472724555372888e-5
allele num: 13382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.214643220977101e-5
allele num: 45154
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.378169790518192e-4
allele num: 7256
num of homozygotes: 0

Other
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: 5250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

FS
type: SiteQuality
SIO_000300: 3.304e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 9.29565e5

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.294419970631424e-4
allele num: 43584
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 2.80561122244489e-3
allele num: 4990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.686909581646424e-4
allele num: 5928
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.733944954128441e-4
allele num: 6976
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: 650
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 3.189e0

DP
type: SiteQuality
SIO_000300: 8.87603e5

MQRankSum
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SIO_000300: 1.82e-1

BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41110
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5282
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
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SIO_000300: 1.31e0

MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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QD
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SIO_000300: 7.32e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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)
type: Population
allele count: 1
allele frequency: 2.561737882979813e-5
allele num: 39036
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2998
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.924557351809084e-4
allele num: 5196
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

South Asian
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.09e-2

MQRankSum
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SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.865e1

MQ
type: SiteQuality
SIO_000300: 5.753e1

DP
type: SiteQuality
SIO_000300: 6.50177e5

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

Latino
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allele frequency: 0.0e0
allele num: 2302
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

African
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allele frequency: 2.141327623126338e-4
allele num: 4670
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
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allele frequency: 3.669455452810803e-5
allele num: 27252
num of homozygotes: 0

Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27256
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
allele num: 2578
num of homozygotes: 0

South Asian
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allele num: 10384
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQRankSum
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VQSLOD
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QD
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FS
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DP
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MQ
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SIO_000300: 5.855e1

InbreedingCoeff
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SIO_000300: -2.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.731900283624421e-5
allele num: 26796
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.009e0

ClippingRankSum
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SIO_000300: -7.72e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -8.72e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.64e-2

DP
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SIO_000300: 6.07753e5

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2198
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1842
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: 0
allele frequency: 0.0e0
allele num: 23772
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele num: 412
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South Asian
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allele num: 9480
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.91e-2

DP
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MQ
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MQRankSum
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SIO_000300: -5.3e-1

QD
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BaseQRankSum
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SIO_000300: -2.298e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 648
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 (Finnish)
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allele frequency: 0.0e0
allele num: 470
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

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

South Asian
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Latino
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African
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allele frequency: 1.462904911180773e-2
allele num: 1914
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European (Finnish)
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East Asian
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Other
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BaseQRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.73105e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

MQRankSum
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SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 8.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.777e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

East Asian
type: Population
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
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24380
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -9.599999999999999e-3

MQRankSum
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QD
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DP
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VQSLOD
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SIO_000300: 1.34e0

BaseQRankSum
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SIO_000300: 1.31e0

ClippingRankSum
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SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28258
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 2.991623454327882e-4
allele num: 10028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
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SIO_000300: 3.61e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 7.71153e5

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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.130379207498935e-4
allele num: 4694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.652e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 7.92004e5

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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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.957354941740108e-5
allele num: 33814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.591e0

QD
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SIO_000300: 1.592e1

DP
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SIO_000300: 8.41957e5

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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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35662
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.064539521392314e-5
allele num: 11032
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
allele num: 4294
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35662
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4294
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 num: 460
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South Asian
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.859150739941994e-5
allele num: 53788
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.14494e6

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 7.28e0

FS
type: SiteQuality
SIO_000300: 1.708e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 348
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variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.776451360761742e-5
allele num: 56292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

FS
type: SiteQuality
SIO_000300: 4.256e0

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

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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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.068147831659902e-4
allele num: 9362
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
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56866
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 4.613e0

DP
type: SiteQuality
SIO_000300: 1.210217e6

VQSLOD
type: SiteQuality
SIO_000300: -2.526e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 792
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57232
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.328727079457879e-4
allele num: 7526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.605e-1

FS
type: SiteQuality
SIO_000300: 1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 6.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.217786e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.344086021505376e-3
allele num: 744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.251258e6

FS
type: SiteQuality
SIO_000300: 0.0e0

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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
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SIO_000300: 1.0e-3

MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.258611e6

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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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8796
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -1.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 786
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.912234739324076e-5
allele num: 61072
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.170577045022194e-5
allele num: 63080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 6.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -1.072e0

DP
type: SiteQuality
SIO_000300: 1.353799e6