19-6187393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187393
    reference: chr 19
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1490G>A
  hgvsp: ENSP00000464938.1:p.Gly497Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12094C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1640G>A
  hgvsp: ENSP00000252669.5:p.Gly547Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1640G>A
  hgvsp: ENSP00000467755.1:p.Gly547Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.52G>A
  hgvsp: ENSP00000466434.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10939C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1640G>A
  hgvsp: ENSP00000465589.1:p.Gly547Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1079G>A
  hgvsp: ENSP00000466336.1:p.Gly360Glu
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10939C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly547Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

19-6187395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187395
    reference: chr 19
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10941C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1642G>A
  hgvsp: ENSP00000465589.1:p.Asp548Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1492G>A
  hgvsp: ENSP00000464938.1:p.Asp498Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1642G>A
  hgvsp: ENSP00000467755.1:p.Asp548Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.54G>A
  hgvsp: ENSP00000466434.1:p.Asp19Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10941C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1081G>A
  hgvsp: ENSP00000466336.1:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1642G>A
  hgvsp: ENSP00000252669.5:p.Asp548Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12092C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1161G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp548Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-6187400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187400
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187400
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1647A>G
  hgvsp: ENST00000591403.1:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1647A>G
  hgvsp: ENST00000252669.5:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1086A>G
  hgvsp: ENST00000588485.1:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1647A>G
  hgvsp: ENST00000586696.1:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1166A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10946T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.59A>G
  hgvsp: ENST00000590132.1:c.59A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10946T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1497A>G
  hgvsp: ENST00000588304.1:c.1497A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12087T>C
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys549Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-6187403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187403
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10949C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1650G>A
  hgvsp: ENST00000591403.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.62G>A
  hgvsp: ENST00000590132.1:c.62G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12084C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1650G>A
  hgvsp: ENST00000252669.5:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10949C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1650G>A
  hgvsp: ENST00000586696.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1169G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1500G>A
  hgvsp: ENST00000588304.1:c.1500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1089G>A
  hgvsp: ENST00000588485.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu550Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-6187405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187405
    reference: chr 19
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.64A>G
  hgvsp: ENSP00000466434.1:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1652A>G
  hgvsp: ENSP00000252669.5:p.Lys551Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12082T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10951T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1502A>G
  hgvsp: ENSP00000464938.1:p.Lys501Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1091A>G
  hgvsp: ENSP00000466336.1:p.Lys364Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1652A>G
  hgvsp: ENSP00000467755.1:p.Lys551Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10951T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1652A>G
  hgvsp: ENSP00000465589.1:p.Lys551Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1171A>G
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys551Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-6187414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187414
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187414
    reference: chr 19
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1661G>A
  hgvsp: ENSP00000465589.1:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1100G>A
  hgvsp: ENSP00000466336.1:p.Ser367Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1511G>A
  hgvsp: ENSP00000464938.1:p.Ser504Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1661G>A
  hgvsp: ENSP00000252669.5:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1661G>A
  hgvsp: ENSP00000467755.1:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10960C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.73G>A
  hgvsp: ENSP00000466434.1:p.Ser25Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1180G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10960C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12073C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser554Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-6187419-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187419
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187419
    reference: chr 19
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1185T>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10965A>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12068A>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1666T>G
  hgvsp: ENSP00000252669.5:p.Leu556Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1105T>G
  hgvsp: ENSP00000466336.1:p.Leu369Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1516T>G
  hgvsp: ENSP00000464938.1:p.Leu506Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1666T>G
  hgvsp: ENSP00000465589.1:p.Leu556Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1666T>G
  hgvsp: ENSP00000467755.1:p.Leu556Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10965A>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.78T>G
  hgvsp: ENSP00000466434.1:p.Leu27Val
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu556Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-6187426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187426
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187426
    reference: chr 19
allele count: 9
allele frequency: 7.42623275463727e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1673C>T
  hgvsp: ENSP00000252669.5:p.Thr558Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1523C>T
  hgvsp: ENSP00000464938.1:p.Thr508Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.85C>T
  hgvsp: ENSP00000466434.1:p.Thr29Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1673C>T
  hgvsp: ENSP00000467755.1:p.Thr558Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1673C>T
  hgvsp: ENSP00000465589.1:p.Thr558Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1112C>T
  hgvsp: ENSP00000466336.1:p.Thr371Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10972G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10972G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12061G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1192C>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39603
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr558Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-6187427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187427
    reference: chr 19
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1674G>A
  hgvsp: ENST00000586696.1:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1524G>A
  hgvsp: ENST00000588304.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12060C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10973C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10973C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1193G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1674G>A
  hgvsp: ENST00000252669.5:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1113G>A
  hgvsp: ENST00000588485.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.86G>A
  hgvsp: ENST00000590132.1:c.86G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1674G>A
  hgvsp: ENST00000591403.1:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr558Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-6187433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187433
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187433
    reference: chr 19
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680G>C
  hgvsp: ENSP00000465589.1:p.Lys560Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12054C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92G>C
  hgvsp: ENSP00000466434.1:p.Lys31Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680G>C
  hgvsp: ENSP00000252669.5:p.Lys560Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680G>C
  hgvsp: ENSP00000467755.1:p.Lys560Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530G>C
  hgvsp: ENSP00000464938.1:p.Lys510Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10979C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119G>C
  hgvsp: ENSP00000466336.1:p.Lys373Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10979C>G
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys560Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

19-6187439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187439
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187439
    reference: chr 19
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-10985T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-10985T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+6A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12048T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+6A>G
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1680+6A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-6187456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187456
    reference: chr 19
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11002C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11002C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+23G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12031C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+23G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-6187456-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187456
    reference: chr 19
allele count: 3
allele frequency: 2.48752093663455e-5
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12031C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11002C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11002C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+23G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+23G>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-6187458-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187458
    reference: chr 19
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11004C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11004C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+25G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12029C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+25G>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-6187460-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187460
    reference: chr 19
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12027C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11006C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+27G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11006C>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-6187469-G-GCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187473
    reference: chr 19
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: GCAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12014_-108+12017dupGCTG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+38_1680+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+38_1680+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+38_92+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+38_1530+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+38_1199+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+38_1680+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11019_46-11016dupGCTG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11019_89-11016dupGCTG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+38_1119+41dupAGCC
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-6187471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187471
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187471
    reference: chr 19
allele count: 17
allele frequency: 1.414945150067418e-4
allele num: 120146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11017T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12016T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11017T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+38A>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+38A>G
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-6187474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187474
    reference: chr 19
allele count: 3
allele frequency: 2.502377258395476e-5
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11020G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11020G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12013G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+41C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+41C>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

19-6187475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187475
    reference: chr 19
allele count: 1190
allele frequency: 9.92791830741507e-3
allele num: 119864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12012C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11021C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+42G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11021C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 4.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 4.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 6.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 6.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 6
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-6187478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187478
    reference: chr 19
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+12009G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1199+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11024G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1680+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1119+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1680+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1680+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11024G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+45C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1530+45C>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-6187559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187559
    reference: chr 19
allele count: 4
allele frequency: 3.323915572544457e-5
allele num: 120340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11928C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11105C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11105C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-51G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-51G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+126G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-51G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-51G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-51G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-51G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-6187561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187561
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187561
    reference: chr 19
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-49G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-49G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11107C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-49G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.92+128G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-49G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-49G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11107C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11926C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-49G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

19-6187563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187563
    reference: chr 19
allele count: 3
allele frequency: 2.491652962575373e-5
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-47G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-47G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11109C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-47G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-127G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11924C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-47G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-47G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11109C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-47G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-6187564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187564
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187564
    reference: chr 19
allele count: 3
allele frequency: 2.491528802072952e-5
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11923C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-126G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-46G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-46G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-46G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-46G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11110C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-46G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11110C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-46G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-6187570-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187570
    reference: chr 19
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11116C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11917C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-40G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-40G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-120G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11116C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-40G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-40G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-40G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-40G>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

19-6187571-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187570
    reference: chr 19
allele count: 2
allele frequency: 1.659806134643474e-5
allele num: 120496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11118delG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-38delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-118delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11118delG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-38delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11915delG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-38delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-38delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-38delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-38delC
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-6187578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187578
    reference: chr 19
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11124C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11909C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11124C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-32G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-112G>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
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: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-6187581-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187581
    reference: chr 19
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-109T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-29T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-29T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-29T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-29T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11127A>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11906A>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11127A>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-29T>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-29T>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

19-6187582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187582
    reference: chr 19
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11128C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11905C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-28G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-108G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11128C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

19-6187582-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187582
    reference: chr 19
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11905C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-28G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-28G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11128C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-28G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-28G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-108G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11128C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-28G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-28G>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-6187586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187586
    reference: chr 19
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11132C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11901C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-24G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-104G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11132C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

19-6187589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187589
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187589
    reference: chr 19
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-21G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11135C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-21G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-101G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-21G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11898C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-21G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11135C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-21G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-21G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-6187595-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187595
    reference: chr 19
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11892C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-15G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11141C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-15G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-15G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-95G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11141C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-15G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-15G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-15G>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-6187602-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187602
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187602
    reference: chr 19
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11148C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11885C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11148C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-8G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-88G>T
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1681-8G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-6187607-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187607
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187607
    reference: chr 19
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11153G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11153G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-83C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120-3C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11880G>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1681-3C>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

19-6187610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187610
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187610
    reference: chr 19
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11156A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-80T>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11877A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1681T>C
  hgvsp: ENSP00000467755.1:p.Cys561Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1531T>C
  hgvsp: ENSP00000464938.1:p.Cys511Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11156A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1681T>C
  hgvsp: ENSP00000465589.1:p.Cys561Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1681T>C
  hgvsp: ENSP00000252669.5:p.Cys561Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1120T>C
  hgvsp: ENSP00000466336.1:p.Cys374Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1200T>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys561Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-6187612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187612
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187612
    reference: chr 19
allele count: 43
allele frequency: 3.547035338370673e-4
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1122T>G
  hgvsp: ENSP00000466336.1:p.Cys374Trp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11158A>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1683T>G
  hgvsp: ENSP00000465589.1:p.Cys561Trp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1683T>G
  hgvsp: ENSP00000467755.1:p.Cys561Trp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1533T>G
  hgvsp: ENSP00000464938.1:p.Cys511Trp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1202T>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-78T>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11158A>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1683T>G
  hgvsp: ENSP00000252669.5:p.Cys561Trp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11875A>C
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys561Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-6187618-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187618
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1539G>C
  hgvsp: ENSP00000464938.1:p.Met513Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1689G>C
  hgvsp: ENSP00000467755.1:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1128G>C
  hgvsp: ENSP00000466336.1:p.Met376Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1689G>C
  hgvsp: ENSP00000252669.5:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-72G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11164C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1208G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1689G>C
  hgvsp: ENSP00000465589.1:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11869C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11164C>G
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met563Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-6187618-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187618
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11164C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1689G>T
  hgvsp: ENSP00000465589.1:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1539G>T
  hgvsp: ENSP00000464938.1:p.Met513Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11869C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11164C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1208G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1689G>T
  hgvsp: ENSP00000467755.1:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-72G>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1128G>T
  hgvsp: ENSP00000466336.1:p.Met376Ile
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1689G>T
  hgvsp: ENSP00000252669.5:p.Met563Ile
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met563Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-6187622-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187622
    reference: chr 19
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11168G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1212C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-68C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1132C>A
  hgvsp: ENSP00000466336.1:p.Gln378Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1693C>A
  hgvsp: ENSP00000252669.5:p.Gln565Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11168G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1693C>A
  hgvsp: ENSP00000465589.1:p.Gln565Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1543C>A
  hgvsp: ENSP00000464938.1:p.Gln515Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11865G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1693C>A
  hgvsp: ENSP00000467755.1:p.Gln565Lys
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln565Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-6187630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187630
    reference: chr 19
allele count: 12
allele frequency: 9.891522964819151e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1140C>T
  hgvsp: ENST00000588485.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1701C>T
  hgvsp: ENST00000591403.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-60C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1701C>T
  hgvsp: ENST00000586696.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1551C>T
  hgvsp: ENST00000588304.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11176G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1220C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11176G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1701C>T
  hgvsp: ENST00000252669.5:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11857G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser567Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-6187631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187631
    reference: chr 19
allele count: 19
allele frequency: 1.566054531667271e-4
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1221G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1552G>A
  hgvsp: ENSP00000464938.1:p.Gly518Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1141G>A
  hgvsp: ENSP00000466336.1:p.Gly381Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1702G>A
  hgvsp: ENSP00000465589.1:p.Gly568Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11177C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11177C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1702G>A
  hgvsp: ENSP00000467755.1:p.Gly568Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1702G>A
  hgvsp: ENSP00000252669.5:p.Gly568Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11856C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-59G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly568Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

19-6187657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187657
    reference: chr 19
allele count: 6686
allele frequency: 5.509955168776371e-2
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1728C>T
  hgvsp: ENST00000252669.5:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11203G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1728C>T
  hgvsp: ENST00000591403.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1167C>T
  hgvsp: ENST00000588485.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-33C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11830G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1728C>T
  hgvsp: ENST00000586696.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1247C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11203G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1578C>T
  hgvsp: ENST00000588304.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.75e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 4.75e1
  variant carriers: 675
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 9.75e1
  variant carriers: 789
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 3.25e1
  variant carriers: 326
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 4.25e1
  variant carriers: 661
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 6.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 5.75e1
  variant carriers: 568
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 639
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Phe576Phe
num of homozygotes: 313
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-6187658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187658
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187658
    reference: chr 19
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1729G>A
  hgvsp: ENSP00000467755.1:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-32G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11829C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1729G>A
  hgvsp: ENSP00000252669.5:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11204C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1579G>A
  hgvsp: ENSP00000464938.1:p.Glu527Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1248G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1168G>A
  hgvsp: ENSP00000466336.1:p.Glu390Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1729G>A
  hgvsp: ENSP00000465589.1:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11204C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu577Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-6187660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187660
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1731G>A
  hgvsp: ENST00000252669.5:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1731G>A
  hgvsp: ENST00000591403.1:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11206C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1731G>A
  hgvsp: ENST00000586696.1:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11827C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1581G>A
  hgvsp: ENST00000588304.1:c.1581G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1250G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1170G>A
  hgvsp: ENST00000588485.1:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11206C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-30G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu577Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-6187669-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187669
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187669
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11215G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11215G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1740C>G
  hgvsp: ENSP00000467755.1:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-21C>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1179C>G
  hgvsp: ENSP00000466336.1:p.Asn393Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1740C>G
  hgvsp: ENSP00000465589.1:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11818G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1590C>G
  hgvsp: ENSP00000464938.1:p.Asn530Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1259C>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1740C>G
  hgvsp: ENSP00000252669.5:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn580Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-6187672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187672
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187672
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1743C>T
  hgvsp: ENST00000591403.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-18C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11218G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1593C>T
  hgvsp: ENST00000588304.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1743C>T
  hgvsp: ENST00000586696.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1262C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11218G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1743C>T
  hgvsp: ENST00000252669.5:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1182C>T
  hgvsp: ENST00000588485.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11815G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe581Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-6187677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187677
    reference: chr 19
allele count: 215
allele frequency: 1.771384316245654e-3
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1598G>A
  hgvsp: ENSP00000464938.1:p.Arg533Gln
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1187G>A
  hgvsp: ENSP00000466336.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1748G>A
  hgvsp: ENSP00000252669.5:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1748G>A
  hgvsp: ENSP00000467755.1:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1748G>A
  hgvsp: ENSP00000465589.1:p.Arg583Gln
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11223C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11223C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11810C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1267G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-13G>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg583Gln
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-6187680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187680
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187680
    reference: chr 19
allele count: 3204
allele frequency: 2.639470128843049e-2
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11226C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1751G>A
  hgvsp: ENSP00000465589.1:p.Gly584Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1751G>A
  hgvsp: ENSP00000467755.1:p.Gly584Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11226C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1751G>A
  hgvsp: ENSP00000252669.5:p.Gly584Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-10G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1270G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1190G>A
  hgvsp: ENSP00000466336.1:p.Gly397Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1601G>A
  hgvsp: ENSP00000464938.1:p.Gly534Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11807C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 5.75e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 6.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 8.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 6.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 566
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.25e1
  variant carriers: 324
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 9.25e1
  variant carriers: 3
hgvs: p.Gly584Asp
num of homozygotes: 76
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-6187684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187684
    reference: chr 19
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11230C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1274G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1605G>A
  hgvsp: ENST00000588304.1:c.1605G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1755G>A
  hgvsp: ENST00000591403.1:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11230C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11803C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1755G>A
  hgvsp: ENST00000252669.5:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1755G>A
  hgvsp: ENST00000586696.1:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-6G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1194G>A
  hgvsp: ENST00000588485.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: c.93-6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-6187686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187686
    reference: chr 19
allele count: 3204
allele frequency: 2.639339670823929e-2
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11232C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1757G>A
  hgvsp: ENSP00000252669.5:p.Gly586Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11801C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1276G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1757G>A
  hgvsp: ENSP00000467755.1:p.Gly586Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.93-4G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1757G>A
  hgvsp: ENSP00000465589.1:p.Gly586Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1607G>A
  hgvsp: ENSP00000464938.1:p.Gly536Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1196G>A
  hgvsp: ENSP00000466336.1:p.Gly399Asp
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11232C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 5.25e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 6.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 588
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 5.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 6.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 4.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.75e1
  variant carriers: 305
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly586Asp
num of homozygotes: 76
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-6187689-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187689
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187688
    reference: chr 19
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.94delC
  hgvsp: ENSP00000466434.1:p.Pro32GlnfsTer65
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11797delG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1281delC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1762delC
  hgvsp: ENSP00000467755.1:p.Gln588ArgfsTer5
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11236delG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1762delC
  hgvsp: ENSP00000465589.1:p.Gln588ArgfsTer5
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1612delC
  hgvsp: ENSP00000464938.1:p.Gln538ArgfsTer5
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1762delC
  hgvsp: ENSP00000252669.5:p.Gln588ArgfsTer5
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1201delC
  hgvsp: ENSP00000466336.1:p.Gln401ArgfsTer5
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11236delG
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln588ArgfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: GC
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-6187693-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187693
    reference: chr 19
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11794C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11239C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11239C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.96G>C
  hgvsp: ENSP00000466434.1:p.Gly33Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1764G>C
  hgvsp: ENSP00000465589.1:p.Gln588His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1203G>C
  hgvsp: ENSP00000466336.1:p.Gln401His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1614G>C
  hgvsp: ENSP00000464938.1:p.Gln538His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1764G>C
  hgvsp: ENSP00000252669.5:p.Gln588His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1764G>C
  hgvsp: ENSP00000467755.1:p.Gln588His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1283G>C
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln588His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-6187695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187695
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187695
    reference: chr 19
allele count: 10
allele frequency: 8.237639422047218e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1766C>T
  hgvsp: ENSP00000467755.1:p.Ala589Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1766C>T
  hgvsp: ENSP00000465589.1:p.Ala589Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1285C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1616C>T
  hgvsp: ENSP00000464938.1:p.Ala539Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11241G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1766C>T
  hgvsp: ENSP00000252669.5:p.Ala589Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11792G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1205C>T
  hgvsp: ENSP00000466336.1:p.Ala402Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.98C>T
  hgvsp: ENST00000590132.1:c.98C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11241G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala589Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-6187699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187699
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187699
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1770C>A
  hgvsp: ENST00000586696.1:c.1770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1770C>A
  hgvsp: ENST00000252669.5:c.1770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11788G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.102C>A
  hgvsp: ENSP00000466434.1:p.His35Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11245G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1209C>A
  hgvsp: ENST00000588485.1:c.1209C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1770C>A
  hgvsp: ENST00000591403.1:c.1770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11245G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1289C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1620C>A
  hgvsp: ENST00000588304.1:c.1620C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His35Asn
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-6187699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187699
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187699
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1770C>T
  hgvsp: ENST00000252669.5:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1770C>T
  hgvsp: ENST00000586696.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1209C>T
  hgvsp: ENST00000588485.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11245G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1289C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.102C>T
  hgvsp: ENSP00000466434.1:p.His35Tyr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11245G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1770C>T
  hgvsp: ENST00000591403.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1620C>T
  hgvsp: ENST00000588304.1:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11788G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His35Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-6187702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187702
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187702
    reference: chr 19
allele count: 10
allele frequency: 8.237232289950576e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1773C>T
  hgvsp: ENST00000591403.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11785G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1623C>T
  hgvsp: ENST00000588304.1:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11248G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11248G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1212C>T
  hgvsp: ENST00000588485.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1773C>T
  hgvsp: ENST00000252669.5:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1292C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1773C>T
  hgvsp: ENST00000586696.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.105C>T
  hgvsp: ENSP00000466434.1:p.Arg36Cys
  variant of: http://identifiers.org/hgnc/24174
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg36Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-6187703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187703
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187703
    reference: chr 19
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1624G>A
  hgvsp: ENSP00000464938.1:p.Val542Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1774G>A
  hgvsp: ENSP00000465589.1:p.Val592Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11784C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11249C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.106G>A
  hgvsp: ENSP00000466434.1:p.Arg36His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11249C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1774G>A
  hgvsp: ENSP00000252669.5:p.Val592Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1774G>A
  hgvsp: ENSP00000467755.1:p.Val592Met
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1293G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1213G>A
  hgvsp: ENSP00000466336.1:p.Val405Met
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val592Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-6187713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187713
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187713
    reference: chr 19
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*3T>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11259A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1634T>C
  hgvsp: ENSP00000464938.1:p.Ile545Thr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1784T>C
  hgvsp: ENSP00000252669.5:p.Ile595Thr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1784T>C
  hgvsp: ENSP00000465589.1:p.Ile595Thr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1223T>C
  hgvsp: ENSP00000466336.1:p.Ile408Thr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1303T>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1784T>C
  hgvsp: ENSP00000467755.1:p.Ile595Thr
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11259A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11774A>G
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8477
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile595Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-6187720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187720
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1791G>C
  hgvsp: ENSP00000467755.1:p.Lys597Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1310G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11767C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1230G>C
  hgvsp: ENSP00000466336.1:p.Lys410Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1791G>C
  hgvsp: ENSP00000465589.1:p.Lys597Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11266C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1791G>C
  hgvsp: ENSP00000252669.5:p.Lys597Asn
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11266C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1641G>C
  hgvsp: ENSP00000464938.1:p.Lys547Asn
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8454
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys597Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

19-6187723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187723
    reference: chr 19
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1794G>A
  hgvsp: ENST00000591403.1:c.1794G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1233G>A
  hgvsp: ENST00000588485.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11764C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11269C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11269C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1794G>A
  hgvsp: ENST00000586696.1:c.1794G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1313G>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1644G>A
  hgvsp: ENST00000588304.1:c.1644G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1794G>A
  hgvsp: ENST00000252669.5:c.1794G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln598Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-6187724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187724
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11270G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1645C>A
  hgvsp: ENSP00000464938.1:p.Gln549Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1795C>A
  hgvsp: ENSP00000467755.1:p.Gln599Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1795C>A
  hgvsp: ENSP00000465589.1:p.Gln599Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1795C>A
  hgvsp: ENSP00000252669.5:p.Gln599Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1234C>A
  hgvsp: ENSP00000466336.1:p.Gln412Lys
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1314C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11763G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11270G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*14C>A
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln599Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-6187728-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187728
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187729
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11758dupG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11275dupG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1654dupC
  hgvsp: ENSP00000464938.1:p.Leu552ProfsTer25
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1804dupC
  hgvsp: ENSP00000467755.1:p.Leu602ProfsTer25
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1323dupC
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1804dupC
  hgvsp: ENSP00000465589.1:p.Leu602ProfsTer25
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1804dupC
  hgvsp: ENSP00000252669.5:p.Leu602ProfsTer25
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1243dupC
  hgvsp: ENSP00000466336.1:p.Leu415ProfsTer25
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11275dupG
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*23dupC
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu602ProfsTer25
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-6187728-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187728
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187728
    reference: chr 19
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11274T>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1799A>T
  hgvsp: ENSP00000252669.5:p.Asp600Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1799A>T
  hgvsp: ENSP00000467755.1:p.Asp600Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1318A>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1799A>T
  hgvsp: ENSP00000465589.1:p.Asp600Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11274T>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1238A>T
  hgvsp: ENSP00000466336.1:p.Asp413Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*18A>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1649A>T
  hgvsp: ENSP00000464938.1:p.Asp550Val
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11759T>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33880
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asp600Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

19-6187729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187729
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11275G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1239C>T
  hgvsp: ENST00000588485.1:c.1239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11275G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1319C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1800C>T
  hgvsp: ENST00000586696.1:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11758G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1800C>T
  hgvsp: ENST00000591403.1:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1800C>T
  hgvsp: ENST00000252669.5:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1650C>T
  hgvsp: ENST00000588304.1:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp600Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-6187730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187730
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1651C>T
  hgvsp: ENSP00000464938.1:p.Pro551Ser
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1801C>T
  hgvsp: ENSP00000252669.5:p.Pro601Ser
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1801C>T
  hgvsp: ENSP00000467755.1:p.Pro601Ser
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1801C>T
  hgvsp: ENSP00000465589.1:p.Pro601Ser
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11276G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11276G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1240C>T
  hgvsp: ENSP00000466336.1:p.Pro414Ser
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1320C>T
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11757G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro601Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-6187731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187731
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1802C>A
  hgvsp: ENSP00000467755.1:p.Pro601His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*21C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1652C>A
  hgvsp: ENSP00000464938.1:p.Pro551His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1802C>A
  hgvsp: ENSP00000465589.1:p.Pro601His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11756G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1802C>A
  hgvsp: ENSP00000252669.5:p.Pro601His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11277G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1241C>A
  hgvsp: ENSP00000466336.1:p.Pro414His
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1321C>A
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11277G>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro601His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-6187731-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187731
    reference: chr 19
allele count: 643
allele frequency: 5.296365852854931e-3
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11277G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11756G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1802C>G
  hgvsp: ENSP00000465589.1:p.Pro601Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1241C>G
  hgvsp: ENSP00000466336.1:p.Pro414Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1652C>G
  hgvsp: ENSP00000464938.1:p.Pro551Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11277G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1802C>G
  hgvsp: ENSP00000252669.5:p.Pro601Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1802C>G
  hgvsp: ENSP00000467755.1:p.Pro601Arg
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1321C>G
  variant of: http://identifiers.org/hgnc/24174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 5.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro601Arg
num of homozygotes: 14
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-6187733-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6187733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6187732
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466336
  ensembl transcript: ENST00000588485
  gene symbol: ACSBG2
  hgvsc: ENST00000588485.1:c.1244delT
  hgvsp: ENSP00000466336.1:p.Leu415ArgfsTer13
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000252669
  ensembl transcript: ENST00000252669
  gene symbol: ACSBG2
  hgvsc: ENST00000252669.5:c.1805delT
  hgvsp: ENSP00000252669.5:p.Leu602ArgfsTer13
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000466434
  ensembl transcript: ENST00000590132
  gene symbol: ACSBG2
  hgvsc: ENST00000590132.1:c.*24delT
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000585324
  gene symbol: RFX2
  hgvsc: ENST00000585324.1:n.46-11280delA
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000467755
  ensembl transcript: ENST00000591403
  gene symbol: ACSBG2
  hgvsc: ENST00000591403.1:c.1805delT
  hgvsp: ENSP00000467755.1:p.Leu602ArgfsTer13
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000465589
  ensembl transcript: ENST00000586696
  gene symbol: ACSBG2
  hgvsc: ENST00000586696.1:c.1805delT
  hgvsp: ENSP00000465589.1:p.Leu602ArgfsTer13
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000464826
  ensembl transcript: ENST00000592883
  gene symbol: RFX2
  hgvsc: ENST00000592883.1:c.-108+11753delA
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130377
  ensembl transcript: ENST00000591741
  gene symbol: ACSBG2
  hgvsc: ENST00000591741.1:n.1324delT
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130377
  ensembl protein: ENSP00000464938
  ensembl transcript: ENST00000588304
  gene symbol: ACSBG2
  hgvsc: ENST00000588304.1:c.1655delT
  hgvsp: ENSP00000464938.1:p.Leu552ArgfsTer13
  variant of: http://identifiers.org/hgnc/24174
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000589712
  gene symbol: RFX2
  hgvsc: ENST00000589712.1:n.89-11280delA
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu602ArgfsTer13
num of homozygotes: 0
reference allele: CT

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39599
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7965
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.935147e6

FS
type: SiteQuality
SIO_000300: 2.148e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 39599
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7969
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 6.75e1
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.515e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.264e0

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

FS
type: SiteQuality
SIO_000300: 6.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.373e1

DP
type: SiteQuality
SIO_000300: 2.935192e6

GenotypeQuality
all individuals: 39600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2226
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.657e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 2.935022e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

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

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

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

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.117e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.756e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 2.934925e6

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.084e0

GenotypeQuality
all individuals: 2595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39601
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7939
bin: 6.25e1
variant carriers: 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: 10406
num of homozygotes: 0

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

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: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.934788e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

FS
type: SiteQuality
SIO_000300: 2.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

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

GenotypeQuality
all individuals: 2595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1654
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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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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.909e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.933934e6

VQSLOD
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QD
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SIO_000300: 1.513e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 3.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

QD
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ClippingRankSum
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SIO_000300: -3.35e-1

VQSLOD
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DP
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SIO_000300: 2.932446e6

FS
type: SiteQuality
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MQRankSum
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SIO_000300: -2.29e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.220703125e-4
allele num: 16384
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
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MQRankSum
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SIO_000300: -6.1e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
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SIO_000300: 5.2e-3

ClippingRankSum
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SIO_000300: -2.35e-1

QD
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DP
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SIO_000300: 2.93059e6

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.62e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

InbreedingCoeff
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SIO_000300: 4.1e-3

QD
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SIO_000300: 1.325e1

MQRankSum
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SIO_000300: -1.1e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

African
type: Population
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: 8654
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 4.9e-3

BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele frequency: 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)
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allele count: 1
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allele num: 66578
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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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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bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
type: Population
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

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

Latino
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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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African
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Other
type: Population
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.2758880381574e-5
allele num: 15934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8652
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
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SIO_000300: 8.88e-1

QD
type: SiteQuality
SIO_000300: 6.93e0

FS
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
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SIO_000300: -1.102e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.291682395872656e-5
allele num: 15894
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 2.897103e6

ClippingRankSum
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SIO_000300: 1.97e0

QD
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InbreedingCoeff
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SIO_000300: 7.5e-3

VQSLOD
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MQ
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BaseQRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 1.32e0

ReadPosRankSum
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SIO_000300: -2.631e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.886055e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

InbreedingCoeff
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SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 3.117e1

MQ
type: SiteQuality
SIO_000300: 5.664e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.095e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.634301095943088e-3
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.884609e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 1.283e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-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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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 2.881943e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

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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variant carriers: 2

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.406159769008662e-3
allele num: 10390
num of homozygotes: 0

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

Latino
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allele count: 77
allele frequency: 6.659747448538316e-3
allele num: 11562
num of homozygotes: 0

European (Finnish)
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allele count: 62
allele frequency: 9.376890502117362e-3
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 113
allele frequency: 7.313915857605178e-3
allele num: 15450
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 907
allele frequency: 1.368147947023863e-2
allele num: 66294
num of homozygotes: 4

DP
type: SiteQuality
SIO_000300: 2.884736e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
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SIO_000300: 1.446e1

VQSLOD
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MQRankSum
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MQ
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 2.876986e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 3.828e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2527
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024096385542168e-5
allele num: 66400
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 9.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

VQSLOD
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MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.895e1

ReadPosRankSum
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SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 2.579478e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.155e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 2.579771e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010053578953705e-5
allele num: 66444
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

DP
type: SiteQuality
SIO_000300: 2.580186e6

GenotypeQuality
all individuals: 3189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 31694
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 830
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
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: 8650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.580567e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 2.619e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.296e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 709
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

FS
type: SiteQuality
SIO_000300: 2.238e0

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

DP
type: SiteQuality
SIO_000300: 2.586442e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.777e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 3261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2490
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variant carriers: 0

GenotypeQuality
all individuals: 678
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3195
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.731e1

FS
type: SiteQuality
SIO_000300: 1.2312e1

MQ
type: SiteQuality
SIO_000300: 6.026e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 2.587175e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

GenotypeQuality
all individuals: 602
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 278
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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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2493
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variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.595391e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.345e0

FS
type: SiteQuality
SIO_000300: 3.326e0

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.232082762059081e-5
allele num: 16046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 6598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 1.069e0

DP
type: SiteQuality
SIO_000300: 2.599713e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 189
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 2.60107e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 1.81e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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QD
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SIO_000300: 9.41e0

FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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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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European (Non-Finnish)
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allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: -1.424e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16150
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
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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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African
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allele count: 1
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allele num: 10396
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66610
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Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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MQRankSum
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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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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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allele num: 16408
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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Latino
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African
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European (Non-Finnish)
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allele num: 66648
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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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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European (Finnish)
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num of homozygotes: 0

Other
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.386e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

FS
type: SiteQuality
SIO_000300: 1.286e0

DP
type: SiteQuality
SIO_000300: 2.622873e6

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

DP
type: SiteQuality
SIO_000300: 2.623986e6

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 6.853e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
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: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

FS
type: SiteQuality
SIO_000300: 6.853e0

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.623986e6

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.113e1

FS
type: SiteQuality
SIO_000300: 2.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 2.624825e6

VQSLOD
type: SiteQuality
SIO_000300: -4.305e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31750
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.190311418685121e-4
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
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: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 1.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 2.62637e6

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31758
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 10
allele frequency: 9.613535858488752e-4
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997720866070893e-5
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460806367883717e-4
allele num: 11558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 2.627602e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2946
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2389
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2274
bin: 8.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34857
bin: 9.75e1
variant carriers: 6321

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8430
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3060
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 2

Latino
type: Population
allele count: 245
allele frequency: 2.119377162629758e-2
allele num: 11560
num of homozygotes: 4

Other
type: Population
allele count: 38
allele frequency: 4.194260485651214e-2
allele num: 906
num of homozygotes: 1

East Asian
type: Population
allele count: 383
allele frequency: 4.426722145168747e-2
allele num: 8652
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 2420
allele frequency: 3.627098321342925e-2
allele num: 66720
num of homozygotes: 34

European (Finnish)
type: Population
allele count: 243
allele frequency: 3.685168334849864e-2
allele num: 6594
num of homozygotes: 6

African
type: Population
allele count: 2035
allele frequency: 1.956354547202461e-1
allele num: 10402
num of homozygotes: 193

South Asian
type: Population
allele count: 1322
allele frequency: 8.007268322228953e-2
allele num: 16510
num of homozygotes: 69

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 2.770792e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33598
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 6.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

DP
type: SiteQuality
SIO_000300: 2.746093e6

FS
type: SiteQuality
SIO_000300: 4.671e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3460
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33605
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 11568
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.746306e6

MQRankSum
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SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.773e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

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: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 1.51e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
type: SiteQuality
SIO_000300: 2.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.747459e6

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
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 2.74765e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.52e0

VQSLOD
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.229e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-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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variant carriers: 213

GenotypeQuality
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GenotypeQuality
all individuals: 8548
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 203
allele frequency: 1.95117262591311e-2
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.914433880726015e-4
allele num: 11570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.52e1

DP
type: SiteQuality
SIO_000300: 2.749954e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 39
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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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variant carriers: 3118

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 32
bin: 3.75e1
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GenotypeQuality
all individuals: 2483
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 93
allele frequency: 1.407811080835604e-2
allele num: 6606
num of homozygotes: 2

South Asian
type: Population
allele count: 1027
allele frequency: 6.219718992248062e-2
allele num: 16512
num of homozygotes: 43

East Asian
type: Population
allele count: 289
allele frequency: 3.339496186734458e-2
allele num: 8654
num of homozygotes: 2

Latino
type: Population
allele count: 77
allele frequency: 6.657444233097008e-3
allele num: 11566
num of homozygotes: 1

African
type: Population
allele count: 576
allele frequency: 5.535268114549299e-2
allele num: 10406
num of homozygotes: 23

European (Non-Finnish)
type: Population
allele count: 1120
allele frequency: 1.678254615200192e-2
allele num: 66736
num of homozygotes: 4

Other
type: Population
allele count: 22
allele frequency: 2.422907488986784e-2
allele num: 908
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.775689e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

FS
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.88e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
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SIO_000300: -3.15e0

ReadPosRankSum
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SIO_000300: 1.48e0

MQRankSum
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SIO_000300: -2.38e-1

VQSLOD
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SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 77
allele frequency: 6.65514261019879e-3
allele num: 11570
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 93
allele frequency: 1.40695915279879e-2
allele num: 6610
num of homozygotes: 2

African
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allele count: 576
allele frequency: 5.535268114549299e-2
allele num: 10406
num of homozygotes: 23

Other
type: Population
allele count: 22
allele frequency: 2.422907488986784e-2
allele num: 908
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1120
allele frequency: 1.678254615200192e-2
allele num: 66736
num of homozygotes: 4

East Asian
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allele count: 289
allele frequency: 3.339496186734458e-2
allele num: 8654
num of homozygotes: 2

South Asian
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allele count: 1027
allele frequency: 6.220472440944882e-2
allele num: 16510
num of homozygotes: 43

FS
type: SiteQuality
SIO_000300: 1.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

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
all individuals: 3292
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
type: Population
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: 11570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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South Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.762648e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
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SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 4.266e0

ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

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

European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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MQRankSum
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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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European (Non-Finnish)
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European (Finnish)
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African
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Other
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Latino
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East Asian
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South Asian
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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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
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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MQ
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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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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Other
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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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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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.228e0

DP
type: SiteQuality
SIO_000300: 2.765332e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.576e0

VQSLOD
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SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
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SIO_000300: -1.414e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
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SIO_000300: 4.97e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
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SIO_000300: -3.445e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
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SIO_000300: -1.124e0

ClippingRankSum
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SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 1.4262e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.765711e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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

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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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.465e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.766069e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

FS
type: SiteQuality
SIO_000300: 2.419e0

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 1

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

Latino
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

South Asian
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Other
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

East Asian
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Other
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allele frequency: 1.101321585903084e-3
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European (Finnish)
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allele count: 0
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Latino
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allele frequency: 2.591568762957844e-3
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 591
allele frequency: 5.679415721699019e-2
allele num: 10406
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.697194917286023e-4
allele num: 66736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 1.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

DP
type: SiteQuality
SIO_000300: 2.79346e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.479e0