3-50326961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326961
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 37148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.696C>T
  hgvsp: ENST00000417626.2:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.390C>T
  hgvsp: ENST00000438296.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.924-170C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.458C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1194C>T
  hgvsp: ENST00000336089.4:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.929C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.696C>T
  hgvsp: ENST00000436390.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*469C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.888C>T
  hgvsp: ENST00000429673.2:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.72C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30281
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His296His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-50326966-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326966
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326966
    reference: chr 3
allele count: 1
allele frequency: 2.678954136305186e-5
allele num: 37328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.883C>G
  hgvsp: ENSP00000398971.2:p.Leu295Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*464C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1189C>G
  hgvsp: ENSP00000336936.4:p.Leu397Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.924C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.453C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.691C>G
  hgvsp: ENSP00000392316.1:p.Leu231Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.691C>G
  hgvsp: ENSP00000402849.2:p.Leu231Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.67C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.385C>G
  hgvsp: ENSP00000415448.1:p.Leu129Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.924-175C>G
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu295Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-50326967-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326967
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326967
    reference: chr 3
allele count: 1
allele frequency: 2.683123155352831e-5
allele num: 37270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1188C>G
  hgvsp: ENSP00000336936.4:p.Ser396Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+176C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.923C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.452C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*463C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.882C>G
  hgvsp: ENSP00000398971.2:p.Ser294Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.690C>G
  hgvsp: ENSP00000402849.2:p.Ser230Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.690C>G
  hgvsp: ENSP00000392316.1:p.Ser230Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.384C>G
  hgvsp: ENSP00000415448.1:p.Ser128Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.66C>G
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30232
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser294Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-50326979-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326979
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326980
    reference: chr 3
allele count: 1
allele frequency: 2.701680445236937e-5
allele num: 37014
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*450_*451insC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.53_54insC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.677_678insC
  hgvsp: ENSP00000392316.1:p.Val227GlyfsTer25
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1175_1176insC
  hgvsp: ENSP00000336936.4:p.Val393GlyfsTer25
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.371_372insC
  hgvsp: ENSP00000415448.1:p.Val125GlyfsTer25
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.910_911insC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.439_440insC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.869_870insC
  hgvsp: ENSP00000398971.2:p.Val291GlyfsTer25
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.677_678insC
  hgvsp: ENSP00000402849.2:p.Val227GlyfsTer25
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+163_923+164insC
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val291GlyfsTer25
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/3-50326986-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326986
    reference: chr 3
allele count: 16
allele frequency: 4.301769102543421e-4
allele num: 37194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.671G>T
  hgvsp: ENSP00000392316.1:p.Ser224Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.47G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*444G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1169G>T
  hgvsp: ENSP00000336936.4:p.Ser390Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.365G>T
  hgvsp: ENSP00000415448.1:p.Ser122Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.863G>T
  hgvsp: ENSP00000398971.2:p.Ser288Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.671G>T
  hgvsp: ENSP00000402849.2:p.Ser224Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+157G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.433G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.904G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30336
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser288Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

3-50326989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326989
    reference: chr 3
allele count: 1
allele frequency: 2.671511006625347e-5
allele num: 37432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.860C>T
  hgvsp: ENSP00000398971.2:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.362C>T
  hgvsp: ENSP00000415448.1:p.Thr121Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+154C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.901C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.44C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.668C>T
  hgvsp: ENSP00000392316.1:p.Thr223Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*441C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1166C>T
  hgvsp: ENSP00000336936.4:p.Thr389Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.430C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.668C>T
  hgvsp: ENSP00000402849.2:p.Thr223Ile
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr287Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

3-50326997-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50326997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50326998
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 37690
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.659dupG
  hgvsp: ENSP00000392316.1:p.Ser221GlnfsTer31
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+145dupG
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.35dupG
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.659dupG
  hgvsp: ENSP00000402849.2:p.Ser221GlnfsTer31
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.851dupG
  hgvsp: ENSP00000398971.2:p.Ser285GlnfsTer31
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.353dupG
  hgvsp: ENSP00000415448.1:p.Ser119GlnfsTer31
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*432dupG
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.421dupG
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.892dupG
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1157dupG
  hgvsp: ENSP00000336936.4:p.Ser387GlnfsTer31
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24901
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser285GlnfsTer31
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-50327000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327000
    reference: chr 3
allele count: 106
allele frequency: 2.683951992707753e-3
allele num: 39494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.849G>A
  hgvsp: ENST00000429673.2:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1155G>A
  hgvsp: ENST00000336089.4:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.419G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.657G>A
  hgvsp: ENST00000417626.2:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.890G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.351G>A
  hgvsp: ENST00000438296.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*430G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.657G>A
  hgvsp: ENST00000436390.1:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+143G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.33G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30836
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly283Gly
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

3-50327002-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327002
    reference: chr 3
allele count: 19
allele frequency: 4.770273663068039e-4
allele num: 39830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.888G>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.31G>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.349G>C
  hgvsp: ENSP00000415448.1:p.Gly117Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.847G>C
  hgvsp: ENSP00000398971.2:p.Gly283Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.655G>C
  hgvsp: ENSP00000392316.1:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+141G>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1153G>C
  hgvsp: ENSP00000336936.4:p.Gly385Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.655G>C
  hgvsp: ENSP00000402849.2:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.417G>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*428G>C
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30982
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Gly283Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-50327003-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327003
    reference: chr 3
allele count: 20
allele frequency: 5.321979776476849e-4
allele num: 37580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*427G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.654G>T
  hgvsp: ENSP00000392316.1:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.30G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.348G>T
  hgvsp: ENSP00000415448.1:p.Leu116Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.654G>T
  hgvsp: ENSP00000402849.2:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.846G>T
  hgvsp: ENSP00000398971.2:p.Leu282Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.887G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+140G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1152G>T
  hgvsp: ENSP00000336936.4:p.Leu384Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.416G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30430
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Leu282Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

3-50327003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327003
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 37580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.654G>A
  hgvsp: ENST00000436390.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+140G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.348G>A
  hgvsp: ENST00000438296.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.846G>A
  hgvsp: ENST00000429673.2:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1152G>A
  hgvsp: ENST00000336089.4:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.654G>A
  hgvsp: ENST00000417626.2:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*427G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.887G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.416G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.30G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30430
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu282Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

3-50327010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327010
    reference: chr 3
allele count: 311
allele frequency: 7.144169806119636e-3
allele num: 43532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+133A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*420A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1145A>G
  hgvsp: ENSP00000336936.4:p.Tyr382Cys
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.839A>G
  hgvsp: ENSP00000398971.2:p.Tyr280Cys
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.880A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.647A>G
  hgvsp: ENSP00000402849.2:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.647A>G
  hgvsp: ENSP00000392316.1:p.Tyr216Cys
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.341A>G
  hgvsp: ENSP00000415448.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.23A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.409A>G
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31288
  bin: 7.5e0
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 6
hgvs: p.Tyr280Cys
num of homozygotes: 3
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-50327016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327016
    reference: chr 3
allele count: 3
allele frequency: 6.789480831032454e-5
allele num: 44186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.833G>A
  hgvsp: ENSP00000398971.2:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.335G>A
  hgvsp: ENSP00000415448.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+127G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.874G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1139G>A
  hgvsp: ENSP00000336936.4:p.Arg380Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.641G>A
  hgvsp: ENSP00000392316.1:p.Arg214Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.641G>A
  hgvsp: ENSP00000402849.2:p.Arg214Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.403G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.17G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31626
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg278Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-50327017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327017
    reference: chr 3
allele count: 12
allele frequency: 2.691427802449199e-4
allele num: 44586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.16C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1138C>T
  hgvsp: ENSP00000336936.4:p.Arg380Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.334C>T
  hgvsp: ENSP00000415448.1:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.640C>T
  hgvsp: ENSP00000392316.1:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.832C>T
  hgvsp: ENSP00000398971.2:p.Arg278Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.402C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+126C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.873C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.640C>T
  hgvsp: ENSP00000402849.2:p.Arg214Trp
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31710
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg278Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-50327022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327022
    reference: chr 3
allele count: 2
allele frequency: 4.35369410945187e-5
allele num: 45938
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.827T>C
  hgvsp: ENSP00000398971.2:p.Phe276Ser
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000464258
  gene symbol: IFRD2
  hgvsc: ENST00000464258.1:n.11T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.635T>C
  hgvsp: ENSP00000392316.1:p.Phe212Ser
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.329T>C
  hgvsp: ENSP00000415448.1:p.Phe110Ser
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.635T>C
  hgvsp: ENSP00000402849.2:p.Phe212Ser
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*408T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1133T>C
  hgvsp: ENSP00000336936.4:p.Phe378Ser
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+121T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.397T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.868T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe276Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-50327044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327044
    reference: chr 3
allele count: 1
allele frequency: 2.006098539560263e-5
allele num: 49848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.613C>T
  hgvsp: ENSP00000392316.1:p.Leu205Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.613C>T
  hgvsp: ENSP00000402849.2:p.Leu205Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.846C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.307C>T
  hgvsp: ENSP00000415448.1:p.Leu103Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1111C>T
  hgvsp: ENSP00000336936.4:p.Leu371Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.375C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+99C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.805C>T
  hgvsp: ENSP00000398971.2:p.Leu269Phe
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*386C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu269Phe
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

3-50327051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327051
    reference: chr 3
allele count: 15
allele frequency: 2.933124755572937e-4
allele num: 51140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+92C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.798C>T
  hgvsp: ENST00000429673.2:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.368C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.839C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.606C>T
  hgvsp: ENST00000417626.2:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.300C>T
  hgvsp: ENST00000438296.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.606C>T
  hgvsp: ENST00000436390.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1104C>T
  hgvsp: ENST00000336089.4:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30932
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val266Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

3-50327053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327053
    reference: chr 3
allele count: 1
allele frequency: 1.946434132668951e-5
allele num: 51376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1102G>A
  hgvsp: ENSP00000336936.4:p.Val368Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.837G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.604G>A
  hgvsp: ENSP00000392316.1:p.Val202Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.604G>A
  hgvsp: ENSP00000402849.2:p.Val202Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.366G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+90G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.298G>A
  hgvsp: ENSP00000415448.1:p.Val100Ile
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.796G>A
  hgvsp: ENSP00000398971.2:p.Val266Ile
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val266Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-50327054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327054
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327054
    reference: chr 3
allele count: 2
allele frequency: 3.885607709045694e-5
allele num: 51472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1101G>A
  hgvsp: ENST00000336089.4:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.795G>A
  hgvsp: ENST00000429673.2:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.603G>A
  hgvsp: ENST00000417626.2:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.603G>A
  hgvsp: ENST00000436390.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.297G>A
  hgvsp: ENST00000438296.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.365G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+89G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.836G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*376G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu265Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-50327059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327059
    reference: chr 3
allele count: 1
allele frequency: 1.908396946564886e-5
allele num: 52400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.831G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.790G>A
  hgvsp: ENSP00000398971.2:p.Asp264Asn
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.598G>A
  hgvsp: ENSP00000402849.2:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.598G>A
  hgvsp: ENSP00000392316.1:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+84G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1096G>A
  hgvsp: ENSP00000336936.4:p.Asp366Asn
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.292G>A
  hgvsp: ENSP00000415448.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.360G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8236
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp264Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

3-50327078-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327079
    reference: chr 3
allele count: 1
allele frequency: 1.8910741301059e-5
allele num: 52880
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.360-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*351dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.292-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.790-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1096-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.831-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.598-20dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+64dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.598-20dupC
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-50327083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327083
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327083
    reference: chr 3
allele count: 6
allele frequency: 1.177856301531213e-4
allele num: 50940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1096-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*347T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+60T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.598-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.790-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.831-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.598-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.292-24T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.360-24T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28961
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28750
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-50327101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327101
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327101
    reference: chr 3
allele count: 1
allele frequency: 1.883877774010022e-5
allele num: 53082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+42G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*329G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+42G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-50327104-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327104
    reference: chr 3
allele count: 5
allele frequency: 9.347891115764284e-5
allele num: 53488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*326G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+39G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+39G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28704
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

3-50327104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327104
    reference: chr 3
allele count: 1
allele frequency: 1.869578223152857e-5
allele num: 53488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+39G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+39G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-50327105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327105
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327105
    reference: chr 3
allele count: 2
allele frequency: 3.722315280104225e-5
allele num: 53730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+38G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+38G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28719
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-50327106-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327106
    reference: chr 3
allele count: 4
allele frequency: 7.468259895444362e-5
allele num: 53560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*324G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+37G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+37G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-50327112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327112
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 54528
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*318C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+31C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+31C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-50327115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327115
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327115
    reference: chr 3
allele count: 1
allele frequency: 1.823220536756126e-5
allele num: 54848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+28G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+28G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-50327117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327117
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327117
    reference: chr 3
allele count: 1
allele frequency: 1.812842173960335e-5
allele num: 55162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*313T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+26T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+26T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-50327120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327120
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327120
    reference: chr 3
allele count: 1
allele frequency: 1.801477211313277e-5
allele num: 55510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*310T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+23T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+23T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

3-50327138-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327138
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327139
    reference: chr 3
allele count: 2
allele frequency: 3.378150124991554e-5
allele num: 59204
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*291dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+4dupA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+4dupA
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
hgvs: c.789+4dupA
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/3-50327142-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327142
    reference: chr 3
allele count: 1
allele frequency: 1.663395322532353e-5
allele num: 60118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*288G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+1G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+1G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
hgvs: c.789+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-50327142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327142
    reference: chr 3
allele count: 1
allele frequency: 1.663395322532353e-5
allele num: 60118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.830+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.789+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1095+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.597+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.291+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.359+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.923+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.597+1G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
hgvs: c.789+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

3-50327154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327154
    reference: chr 3
allele count: 1
allele frequency: 1.621691748832382e-5
allele num: 61664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.586G>A
  hgvsp: ENSP00000402849.2:p.Ala196Thr
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.280G>A
  hgvsp: ENSP00000415448.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.586G>A
  hgvsp: ENSP00000392316.1:p.Ala196Thr
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*276G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.348G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.778G>A
  hgvsp: ENSP00000398971.2:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1084G>A
  hgvsp: ENSP00000336936.4:p.Ala362Thr
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.819G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.912G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala260Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

3-50327155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327155
    reference: chr 3
allele count: 4
allele frequency: 6.426115734344376e-5
allele num: 62246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1083C>T
  hgvsp: ENST00000336089.4:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.279C>T
  hgvsp: ENST00000438296.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.911C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.585C>T
  hgvsp: ENST00000417626.2:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.585C>T
  hgvsp: ENST00000436390.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.777C>T
  hgvsp: ENST00000429673.2:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.818C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.347C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26587
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30112
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala259Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

3-50327163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327163
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327163
    reference: chr 3
allele count: 4
allele frequency: 6.346587122774728e-5
allele num: 63026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.577G>A
  hgvsp: ENSP00000402849.2:p.Val193Met
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.810G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*267G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.903G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1075G>A
  hgvsp: ENSP00000336936.4:p.Val359Met
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.271G>A
  hgvsp: ENSP00000415448.1:p.Val91Met
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.577G>A
  hgvsp: ENSP00000392316.1:p.Val193Met
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.339G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.769G>A
  hgvsp: ENSP00000398971.2:p.Val257Met
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26268
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val257Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

3-50327164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327164
    reference: chr 3
allele count: 3
allele frequency: 4.745333755140778e-5
allele num: 63220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.576C>T
  hgvsp: ENST00000436390.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.768C>T
  hgvsp: ENST00000429673.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.809C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.576C>T
  hgvsp: ENST00000417626.2:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.270C>T
  hgvsp: ENST00000438296.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.902C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1074C>T
  hgvsp: ENST00000336089.4:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.338C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr256Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-50327181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327181
    reference: chr 3
allele count: 1
allele frequency: 1.570203812454857e-5
allele num: 63686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1057C>G
  hgvsp: ENSP00000336936.4:p.Leu353Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.559C>G
  hgvsp: ENSP00000392316.1:p.Leu187Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.792C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.751C>G
  hgvsp: ENSP00000398971.2:p.Leu251Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.321C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.253C>G
  hgvsp: ENSP00000415448.1:p.Leu85Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.885C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.559C>G
  hgvsp: ENSP00000402849.2:p.Leu187Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*249C>G
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu251Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-50327182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327182
    reference: chr 3
allele count: 2
allele frequency: 3.142085087664174e-5
allele num: 63652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1056C>T
  hgvsp: ENST00000336089.4:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.884C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.558C>T
  hgvsp: ENST00000436390.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.252C>T
  hgvsp: ENST00000438296.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.750C>T
  hgvsp: ENST00000429673.2:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.320C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.791C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.558C>T
  hgvsp: ENST00000417626.2:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala250Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

3-50327185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327185
    reference: chr 3
allele count: 1
allele frequency: 1.570647735125966e-5
allele num: 63668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.249T>C
  hgvsp: ENST00000438296.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.788T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1053T>C
  hgvsp: ENST00000336089.4:c.1053T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.881T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.747T>C
  hgvsp: ENST00000429673.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*245T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.555T>C
  hgvsp: ENST00000436390.1:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.555T>C
  hgvsp: ENST00000417626.2:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.317T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9604
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser249Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-50327197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327197
    reference: chr 3
allele count: 1
allele frequency: 1.587553579933323e-5
allele num: 62990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.305A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-4A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-4A>G
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
hgvs: c.739-4A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-50327206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327206
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 62376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.296C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-13C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-13C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-50327218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327218
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 59956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.284C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-25C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-25C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-50327222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327222
    reference: chr 3
allele count: 4
allele frequency: 6.701963675356879e-5
allele num: 59684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.280G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-29G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-29G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24521
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

3-50327223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327223
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327223
    reference: chr 3
allele count: 2
allele frequency: 3.391094984570518e-5
allele num: 58978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.279C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-30C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-30C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

3-50327228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327228
    reference: chr 3
allele count: 5
allele frequency: 8.486082824168364e-5
allele num: 58920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.274C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-35C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25038
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-50327229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327229
    reference: chr 3
allele count: 10
allele frequency: 1.714031058242775e-4
allele num: 58342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.273G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-36G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-36G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24942
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-50327229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327229
    reference: chr 3
allele count: 9
allele frequency: 1.542627952418498e-4
allele num: 58342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.273G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-36G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-36G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24942
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-50327234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327234
    reference: chr 3
allele count: 1
allele frequency: 1.721644514840576e-5
allele num: 58084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.268C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-41C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-41C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25488
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-50327235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327235
    reference: chr 3
allele count: 7
allele frequency: 1.201510470305527e-4
allele num: 58260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-42T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.267T>C
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-42T>C
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-50327238-CTGGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327238
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327233
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 58046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-50_1045-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-50_739-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-50_547-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-50_547-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.259_263delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-50_780-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-50_*237-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-50_873-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-50_241-46delACCCA
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
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: CTGGGT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-50327242-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327242
    reference: chr 3
allele count: 51
allele frequency: 8.767707330490992e-4
allele num: 58168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.739-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.547-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.780-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.547-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.873-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.241-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.260C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*237-49C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1045-49C>G
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25612
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-50327312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327312
    reference: chr 3
allele count: 1
allele frequency: 9.082652134423252e-6
allele num: 110100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.190A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+48A>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+48A>G
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-50327317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327317
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327317
    reference: chr 3
allele count: 1
allele frequency: 9.085127646043428e-6
allele num: 110070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.185C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+43C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+43C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-50327322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327322
    reference: chr 3
allele count: 2
allele frequency: 1.812349348460409e-5
allele num: 110354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+38C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.180C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+38C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-50327323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327323
    reference: chr 3
allele count: 5
allele frequency: 4.530134454390607e-5
allele num: 110372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.179C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+37C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+37C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-50327325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327325
    reference: chr 3
allele count: 1
allele frequency: 9.056658455296334e-6
allele num: 110416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.177C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+35C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+35C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-50327326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327326
    reference: chr 3
allele count: 1
allele frequency: 9.06043308870164e-6
allele num: 110370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.176G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+34G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+34G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-50327329-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327329
    reference: chr 3
allele count: 1
allele frequency: 9.036362321983662e-6
allele num: 110664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+31C>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.173C>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-50327331-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327332
    reference: chr 3
allele count: 1
allele frequency: 9.024782051513457e-6
allele num: 110806
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.170dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+28dupC
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+28dupC
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-50327333-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327333
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327333
    reference: chr 3
allele count: 2
allele frequency: 1.803654203416121e-5
allele num: 110886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.169C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+27C>G
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+27C>G
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23697
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28155
  bin: 6.25e1
  variant carriers: 0
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: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-50327339-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327339
    reference: chr 3
allele count: 6
allele frequency: 5.396556996636146e-5
allele num: 111182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.163T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+21T>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+21T>A
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-50327349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327349
    reference: chr 3
allele count: 2
allele frequency: 1.790382067533212e-5
allele num: 111708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.153C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+11C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+11C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

3-50327359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327359
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327359
    reference: chr 3
allele count: 2
allele frequency: 1.784184984299172e-5
allele num: 112096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240+1G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.143G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872+1G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
hgvs: c.738+1G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-50327360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327360
    reference: chr 3
allele count: 3
allele frequency: 2.675036558832971e-5
allele num: 112148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1044C>T
  hgvsp: ENST00000336089.4:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.240C>T
  hgvsp: ENST00000438296.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.779C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.546C>T
  hgvsp: ENST00000436390.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.546C>T
  hgvsp: ENST00000417626.2:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.738C>T
  hgvsp: ENST00000429673.2:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.142C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.872C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
hgvs: c.738C>T
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-50327366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327366
    reference: chr 3
allele count: 1
allele frequency: 8.916311500258573e-6
allele num: 112154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1038G>T
  hgvsp: ENST00000336089.4:c.1038G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.234G>T
  hgvsp: ENST00000438296.1:c.234G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*230G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.866G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.540G>T
  hgvsp: ENST00000417626.2:c.540G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.540G>T
  hgvsp: ENST00000436390.1:c.540G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.732G>T
  hgvsp: ENST00000429673.2:c.732G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.136G>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.773G>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg244Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-50327367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327367
    reference: chr 3
allele count: 1
allele frequency: 8.903609523300746e-6
allele num: 112314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.539G>A
  hgvsp: ENSP00000402849.2:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.731G>A
  hgvsp: ENSP00000398971.2:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.539G>A
  hgvsp: ENSP00000392316.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.772G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.233G>A
  hgvsp: ENSP00000415448.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1037G>A
  hgvsp: ENSP00000336936.4:p.Arg346Gln
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.135G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.865G>A
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg244Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-50327368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327368
    reference: chr 3
allele count: 1
allele frequency: 8.901073469460416e-6
allele num: 112346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.232C>T
  hgvsp: ENSP00000415448.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.538C>T
  hgvsp: ENSP00000392316.1:p.Arg180Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1036C>T
  hgvsp: ENSP00000336936.4:p.Arg346Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.864C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.538C>T
  hgvsp: ENSP00000402849.2:p.Arg180Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.771C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.134C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.730C>T
  hgvsp: ENSP00000398971.2:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg244Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-50327370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50327370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 50327370
    reference: chr 3
allele count: 1
allele frequency: 8.880994671403197e-6
allele num: 112600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000336936
  ensembl transcript: ENST00000336089
  gene symbol: IFRD2
  hgvsc: ENST00000336089.4:c.1034C>T
  hgvsp: ENSP00000336936.4:p.Ala345Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000402849
  ensembl transcript: ENST00000417626
  gene symbol: IFRD2
  hgvsc: ENST00000417626.2:c.536C>T
  hgvsp: ENSP00000402849.2:p.Ala179Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000413726
  ensembl transcript: ENST00000414734
  gene symbol: IFRD2
  hgvsc: ENST00000414734.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000483071
  gene symbol: IFRD2
  hgvsc: ENST00000483071.1:n.132C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000398971
  ensembl transcript: ENST00000429673
  gene symbol: IFRD2
  hgvsc: ENST00000429673.2:c.728C>T
  hgvsp: ENSP00000398971.2:p.Ala243Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000474556
  gene symbol: IFRD2
  hgvsc: ENST00000474556.1:n.769C>T
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000392316
  ensembl transcript: ENST00000436390
  gene symbol: IFRD2
  hgvsc: ENST00000436390.1:c.536C>T
  hgvsp: ENSP00000392316.1:p.Ala179Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214706
  ensembl protein: ENSP00000415448
  ensembl transcript: ENST00000438296
  gene symbol: IFRD2
  hgvsc: ENST00000438296.1:c.230C>T
  hgvsp: ENSP00000415448.1:p.Ala77Val
  variant of: http://identifiers.org/hgnc/5457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214706
  ensembl transcript: ENST00000489569
  gene symbol: IFRD2
  hgvsc: ENST00000489569.1:n.862C>T
  variant of: http://identifiers.org/hgnc/5457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25013
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Ala243Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1670
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

DP
type: SiteQuality
SIO_000300: 7.20287e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11472
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.060728744939271e-5
allele num: 19760
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 7.18518e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 3295
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.069451485349285e-5
allele num: 19726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.081e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 7.811e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.18403e5

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

GenotypeQuality
all individuals: 1672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11308
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.077688636132832e-5
allele num: 19694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.16374e5

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

FS
type: SiteQuality
SIO_000300: 1.3919e1

MQRankSum
type: SiteQuality
SIO_000300: -2.176e0

MQ
type: SiteQuality
SIO_000300: 5.4e1

VQSLOD
type: SiteQuality
SIO_000300: -2.0e0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11075
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3319
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25644
bin: 2.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 7.15307582260372e-4
allele num: 1398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 5.5209797229472e-4
allele num: 19924
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.179926560587516e-4
allele num: 3268
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.137915339098771e-4
allele num: 8788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

QD
type: SiteQuality
SIO_000300: 1.102e1

DP
type: SiteQuality
SIO_000300: 7.16672e5

GenotypeQuality
all individuals: 1675
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4730
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10904
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.135589370883489e-4
allele num: 8806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20086
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 7.19068e5

GenotypeQuality
all individuals: 1241
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10193
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5083
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 7.26746e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 4958
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 9548
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 599
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 847
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1622
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2964
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 28334
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2052
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 818
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1779
bin: 9.75e1
variant carriers: 104

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 4.294478527607362e-3
allele num: 1630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2090
num of homozygotes: 0

African
type: Population
allele count: 96
allele frequency: 2.772963604852686e-2
allele num: 3462
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.380863039399625e-5
allele num: 21320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 7.39115e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 640
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9298
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1714
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5042
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.637358560563902e-5
allele num: 21564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 17
allele frequency: 8.049242424242424e-3
allele num: 2112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.126633618747183e-4
allele num: 8876
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.253e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 9.68e0

DP
type: SiteQuality
SIO_000300: 7.42895e5

GenotypeQuality
all individuals: 2941
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4598
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3639
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8715
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1914
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1495
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.351351351351351e-3
allele num: 1480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.657789613848203e-4
allele num: 1502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 6.399527419513636e-4
allele num: 20314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.277955271565495e-3
allele num: 3130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

FS
type: SiteQuality
SIO_000300: 1.9826e2

VQSLOD
type: SiteQuality
SIO_000300: -1.841e2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 7.6818e5

QD
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1461
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 1.9826e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.841e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 7.6818e5

QD
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 7099
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2965
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 825
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 29974
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1984
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1601
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2271
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 14

GenotypeQuality
all individuals: 2301
bin: 9.75e1
variant carriers: 302

GenotypeQuality
all individuals: 5270
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1811
bin: 3.25e1
variant carriers: 2

South Asian
type: Population
allele count: 41
allele frequency: 4.537405931828243e-3
allele num: 9036
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 5.035246727089627e-3
allele num: 1986
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 7.772020725388601e-3
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.300052002080083e-3
allele num: 3846
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.152823920265781e-4
allele num: 2408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.395348837209302e-3
allele num: 2150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 248
allele frequency: 1.045531197301855e-2
allele num: 23720
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.90225e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e0

QD
type: SiteQuality
SIO_000300: 1.387e1

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.309066843150232e-4
allele num: 9066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.0194e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 4.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.094e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 6149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 789
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5980
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1570
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 3.68429670869494e-4
allele num: 24428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.202643171806167e-4
allele num: 9080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.5e-3
allele num: 400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

FS
type: SiteQuality
SIO_000300: 3.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 8.05354e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

GenotypeQuality
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
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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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 412
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: 2
allele frequency: 7.911392405063291e-5
allele num: 25280
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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SIO_000300: -1.501e0

DP
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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Other
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allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

Latino
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allele frequency: 3.930817610062893e-4
allele num: 2544
num of homozygotes: 0

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

South Asian
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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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num of homozygotes: 0

Latino
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allele frequency: 1.504890895410083e-3
allele num: 2658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 3.495037047392702e-4
allele num: 28612
num of homozygotes: 0

Other
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allele frequency: 2.252252252252252e-3
allele num: 444
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East Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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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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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: 3.481166887140569e-5
allele num: 28726
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.264e0

FS
type: SiteQuality
SIO_000300: 5.283e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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QD
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 (Non-Finnish)
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allele count: 2
allele frequency: 6.94589150517469e-5
allele num: 28794
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.348737525952716e-5
allele num: 29862
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.31e-2

ReadPosRankSum
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SIO_000300: 7.41e-1

BaseQRankSum
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SIO_000300: -1.133e0

VQSLOD
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SIO_000300: 8.179999999999999e-1

FS
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ClippingRankSum
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DP
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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 5.181347150259067e-4
allele num: 9650
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2583e1

ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

South Asian
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allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30074
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.2583e1

MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3028
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30242
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.072538860103627e-4
allele num: 9650
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

VQSLOD
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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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.55834e5

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 2.145922746781116e-3
allele num: 466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 6.57030223390276e-4
allele num: 3044
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30078
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 3.119151590767311e-4
allele num: 3206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.56281e5

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 7.3e-1

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

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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African
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South Asian
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 31076
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

East Asian
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 8.7572e5

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 2.522e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 2386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.367686527106817e-4
allele num: 3726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 9.10617e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.439e0

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
all individuals: 2367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.940657531023937e-5
allele num: 34006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 9.17219e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 10288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 9.17219e5

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 29815
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variant carriers: 0

GenotypeQuality
all individuals: 1016
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GenotypeQuality
all individuals: 1772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
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variant carriers: 0

GenotypeQuality
all individuals: 1545
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variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 677
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.873617693522907e-5
allele num: 10128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 9.37417e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

FS
type: SiteQuality
SIO_000300: 8.537000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.029e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 2190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 837
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
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GenotypeQuality
all individuals: 2621
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.514019752525826e-5
allele num: 35236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.09e1

DP
type: SiteQuality
SIO_000300: 9.40608e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2596
bin: 7.5e0
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GenotypeQuality
all individuals: 30092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
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variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.431906614785992e-4
allele num: 4112
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.966955153422502e-4
allele num: 5084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.786979415988511e-4
allele num: 4178
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 9.41323e5

GenotypeQuality
all individuals: 30262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 2210
bin: 3.25e1
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GenotypeQuality
all individuals: 11593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2089
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.366333872497072e-5
allele num: 35858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 9.43175e5

FS
type: SiteQuality
SIO_000300: 8.345000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3002
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9979
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variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 5.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.25562e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 2911
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4138
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.875670404680643e-4
allele num: 4102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.606e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
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SIO_000300: 9.23613e5

MQRankSum
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SIO_000300: -1.098e0

QD
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SIO_000300: 5.83e0

VQSLOD
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SIO_000300: -2.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-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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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.413127413127413e-4
allele num: 4144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36196
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4100
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3240
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 9.18516e5

FS
type: SiteQuality
SIO_000300: 1.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: -8.0e-3

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

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.788622420524261e-5
allele num: 35860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3220
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 8.9773e5

InbreedingCoeff
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SIO_000300: -9.599999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
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SIO_000300: -4.0e-3

QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

FS
type: SiteQuality
SIO_000300: 8.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.8347e5

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

DP
type: SiteQuality
SIO_000300: 8.54736e5

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 9.06e0

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: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 2.051702913418137e-4
allele num: 4874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.807468733485996e-5
allele num: 34062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.228e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6411e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.974773917182294e-5
allele num: 33616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.189414213499851e-4
allele num: 33630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 3.003003003003003e-4
allele num: 3330
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -1.42e-2

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.962143853357243e-4
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.537e1

DP
type: SiteQuality
SIO_000300: 8.4377e5

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
all individuals: 6430
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.040816326530612e-3
allele num: 490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.803968731208659e-4
allele num: 33260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.250975292587776e-4
allele num: 3076
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

DP
type: SiteQuality
SIO_000300: 8.4377e5

GenotypeQuality
all individuals: 660
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3813
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 2.09819555182543e-4
allele num: 4766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

DP
type: SiteQuality
SIO_000300: 8.39702e5

FS
type: SiteQuality
SIO_000300: 1.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 460
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 670
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.106403466538276e-4
allele num: 33232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 8.39763e5

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 7.099e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 2229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 8.41399e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
all individuals: 5024
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21965
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2290
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 5937
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GenotypeQuality
all individuals: 2161
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 876
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.244646333549643e-3
allele num: 3082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 5.728067530901417e-4
allele num: 33170
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.132231404958678e-3
allele num: 484
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 3.875968992248062e-3
allele num: 3354
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 6.921099466086612e-4
allele num: 10114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.45129e5

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

GenotypeQuality
all individuals: 4497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
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GenotypeQuality
all individuals: 17325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
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variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61806
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.254705144291092e-4
allele num: 7970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: -7.121e-1

FS
type: SiteQuality
SIO_000300: 6.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.178002e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20543
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GenotypeQuality
all individuals: 5029
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618804027584421e-5
allele num: 61774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.803e1

MQRankSum
type: SiteQuality
SIO_000300: -1.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

DP
type: SiteQuality
SIO_000300: 1.191437e6

GenotypeQuality
all individuals: 7156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 1329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61540449728612e-5
allele num: 61904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.572e0

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

DP
type: SiteQuality
SIO_000300: 1.207889e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.216e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 1333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 2
allele frequency: 1.320829480914014e-4
allele num: 15142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.229452607782981e-5
allele num: 61930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.795332136445242e-4
allele num: 5570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.211968e6

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 1.1259e1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

QD
type: SiteQuality
SIO_000300: 7.74e0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61946
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25093820365274e-4
allele num: 7994
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.366e0

DP
type: SiteQuality
SIO_000300: 1.220485e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

GenotypeQuality
all individuals: 2252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7160
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1070
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615143586264819e-5
allele num: 61914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.225232e6

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 4.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 193
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 539
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.234567901234568e-3
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62064
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.236387e6

VQSLOD
type: SiteQuality
SIO_000300: -1.367e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

GenotypeQuality
all individuals: 3135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 4695
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 1021
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variant carriers: 0

GenotypeQuality
all individuals: 28597
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609580221478239e-5
allele num: 62128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.584e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.242246e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 916
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4268
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608596338834733e-5
allele num: 62166
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 2.756e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

DP
type: SiteQuality
SIO_000300: 1.246702e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 837
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4787
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.627727856225931e-5
allele num: 62320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.268137e6

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 104
bin: 1.25e1
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GenotypeQuality
all individuals: 133
bin: 1.75e1
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GenotypeQuality
all individuals: 915
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33214
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.30890052356021e-4
allele num: 15280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e0

QD
type: SiteQuality
SIO_000300: 7.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.2924e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 1309
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GenotypeQuality
all individuals: 2685
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.191421459117891e-5
allele num: 62668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.303653e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

FS
type: SiteQuality
SIO_000300: 1.642e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

East Asian
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allele frequency: 1.226391954868776e-4
allele num: 8154
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.189589180913498e-5
allele num: 62704
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.696e0

DP
type: SiteQuality
SIO_000300: 1.304187e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 1.2173e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.594387755102041e-5
allele num: 62720
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.308347e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
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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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.521995810321844e-5
allele num: 10502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.67e0

DP
type: SiteQuality
SIO_000300: 1.308389e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62742
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South Asian
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allele count: 1
allele frequency: 6.505334374186833e-5
allele num: 15372
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Other
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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ReadPosRankSum
type: SiteQuality
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