3-52852501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852501
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852501
    reference: chr 3
allele count: 4
allele frequency: 5.842998626895322e-5
allele num: 68458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2321G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2039G>C
  hgvsp: ENSP00000384425.1:p.Arg680Pro
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2129G>C
  hgvsp: ENSP00000266041.4:p.Arg710Pro
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.326G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2039G>C
  hgvsp: ENSP00000340520.5:p.Arg680Pro
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1611G>C
  hgvsp: ENSP00000395634.2:p.Arg538Pro
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.258G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2144G>C
  hgvsp: ENSP00000417824.1:p.Arg715Pro
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3499G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg710Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-52852502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852502
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852502
    reference: chr 3
allele count: 1
allele frequency: 1.44881342180754e-5
allele num: 69022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2143C>T
  hgvsp: ENSP00000417824.1:p.Arg715Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2038C>T
  hgvsp: ENSP00000340520.5:p.Arg680Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2128C>T
  hgvsp: ENSP00000266041.4:p.Arg710Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2320C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3498C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1610C>T
  hgvsp: ENSP00000395634.2:p.Arg538Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2038C>T
  hgvsp: ENSP00000384425.1:p.Arg680Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.257C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.325C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg710Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-52852509-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852509
    reference: chr 3
allele count: 1
allele frequency: 1.424095699230988e-5
allele num: 70220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.318T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2136T>C
  hgvsp: ENST00000485816.1:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2031T>C
  hgvsp: ENST00000346281.5:c.2031T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2031T>C
  hgvsp: ENST00000406595.1:c.2031T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2313T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3491T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2121T>C
  hgvsp: ENST00000266041.4:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1603T>C
  hgvsp: ENST00000441637.2:c.1603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.250T>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala707Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

3-52852516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852516
    reference: chr 3
allele count: 1
allele frequency: 1.40417883621658e-5
allele num: 71216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2129A>G
  hgvsp: ENSP00000417824.1:p.Asp710Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2114A>G
  hgvsp: ENSP00000266041.4:p.Asp705Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1596A>G
  hgvsp: ENSP00000395634.2:p.Asp533Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3484A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2306A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2024A>G
  hgvsp: ENSP00000340520.5:p.Asp675Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.311A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2024A>G
  hgvsp: ENSP00000384425.1:p.Asp675Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.243A>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp705Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-52852526-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852526
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852526
    reference: chr 3
allele count: 4
allele frequency: 5.611042531702391e-5
allele num: 71288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3474T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2014T>G
  hgvsp: ENSP00000340520.5:p.Ser672Ala
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2014T>G
  hgvsp: ENSP00000384425.1:p.Ser672Ala
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2119T>G
  hgvsp: ENSP00000417824.1:p.Ser707Ala
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2104T>G
  hgvsp: ENSP00000266041.4:p.Ser702Ala
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1586T>G
  hgvsp: ENSP00000395634.2:p.Ser530Ala
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.233T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.301T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2296T>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22633
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser702Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-52852528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852528
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852528
    reference: chr 3
allele count: 1
allele frequency: 1.408173036302701e-5
allele num: 71014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2012C>T
  hgvsp: ENSP00000340520.5:p.Thr671Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.299C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2102C>T
  hgvsp: ENSP00000266041.4:p.Thr701Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2117C>T
  hgvsp: ENSP00000417824.1:p.Thr706Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1584C>T
  hgvsp: ENSP00000395634.2:p.Thr529Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2012C>T
  hgvsp: ENSP00000384425.1:p.Thr671Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3472C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.231C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2294C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr701Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-52852535-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852535
    reference: chr 3
allele count: 1
allele frequency: 1.401384567953138e-5
allele num: 71358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.292C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1577C>A
  hgvsp: ENSP00000395634.2:p.Pro527Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2005C>A
  hgvsp: ENSP00000384425.1:p.Pro669Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2287C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2110C>A
  hgvsp: ENSP00000417824.1:p.Pro704Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2005C>A
  hgvsp: ENSP00000340520.5:p.Pro669Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.224C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3465C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2095C>A
  hgvsp: ENSP00000266041.4:p.Pro699Thr
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26213
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro699Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

3-52852538-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852538
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852538
    reference: chr 3
allele count: 25605
allele frequency: 3.187238597888867e-1
allele num: 80336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2092C>A
  hgvsp: ENSP00000266041.4:p.Pro698Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2107C>A
  hgvsp: ENSP00000417824.1:p.Pro703Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3462C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.2002C>A
  hgvsp: ENSP00000340520.5:p.Pro668Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.289C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.2002C>A
  hgvsp: ENSP00000384425.1:p.Pro668Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.221C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2284C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1574C>A
  hgvsp: ENSP00000395634.2:p.Pro526Thr
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 1.75e1
  variant carriers: 6251
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.25e1
  variant carriers: 2974
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.75e1
  variant carriers: 1127
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 7.5e0
  variant carriers: 3322
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 1.25e1
  variant carriers: 7494
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.5e0
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 9.75e1
  variant carriers: 1539
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.75e1
  variant carriers: 413
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 686
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 720
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 339
hgvs: p.Pro698Thr
num of homozygotes: 3544
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-52852542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852542
    reference: chr 3
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1998A>G
  hgvsp: ENST00000346281.5:c.1998A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.217A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2120A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1570A>G
  hgvsp: ENST00000441637.2:c.1570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3458A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2103A>G
  hgvsp: ENST00000485816.1:c.2103A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1998A>G
  hgvsp: ENST00000406595.1:c.1998A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2088A>G
  hgvsp: ENST00000266041.4:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.285A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2280A>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32130
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser696Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-52852546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852546
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852546
    reference: chr 3
allele count: 1
allele frequency: 1.559040878051823e-5
allele num: 64142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1994C>T
  hgvsp: ENSP00000340520.5:p.Ala665Val
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2276C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2099C>T
  hgvsp: ENSP00000417824.1:p.Ala700Val
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2084C>T
  hgvsp: ENSP00000266041.4:p.Ala695Val
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3454C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2116C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1994C>T
  hgvsp: ENSP00000384425.1:p.Ala665Val
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.213C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1566C>T
  hgvsp: ENSP00000395634.2:p.Ala523Val
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.281C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala695Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

3-52852567-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852567
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852566
    reference: chr 3
allele count: 1
allele frequency: 1.880194036024518e-5
allele num: 53186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2093-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.207-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2110-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2078-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1560-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2270-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3432delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1988-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.275-16delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1988-16delG
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

3-52852569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852569
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 51450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1988-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2110-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.207-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2078-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3431G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1988-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.275-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1560-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2093-17G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2270-17G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-52852570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852570
    reference: chr 3
allele count: 7
allele frequency: 1.379745338431821e-4
allele num: 50734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.207-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1988-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1560-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2078-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1988-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3430C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2110-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2093-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2270-18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.275-18C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24313
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52852590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52852590
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52852590
    reference: chr 3
allele count: 1
allele frequency: 2.577585318074028e-5
allele num: 38796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2078-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1988-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*3410T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.207-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1560-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2110-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2270-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2093-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1988-38T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.275-38T>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17248
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

3-52853360-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853360
    reference: chr 3
allele count: 3
allele frequency: 2.506977754750723e-5
allele num: 119666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+49C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2640C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+49C>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-52853366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853366
    reference: chr 3
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2634G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+43G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+43G>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10860
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52853367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853367
    reference: chr 3
allele count: 141
allele frequency: 1.177984226707659e-3
allele num: 119696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2633G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+42G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+42G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-52853368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853368
    reference: chr 3
allele count: 1190
allele frequency: 9.935544200647897e-3
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+41C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2632C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+41C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 3.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 2.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 11
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

3-52853372-G-GAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853375
    reference: chr 3
allele count: 2
allele frequency: 1.667444807576869e-5
allele num: 119944
alternate allele: GAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+34_1559+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+34_1987+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+34_1987+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+34_2092+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2625_*2627dupTTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+34_2077+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+34_274+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+34_2109+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+34_2269+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+34_206+36dupTTT
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52853377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853377
    reference: chr 3
allele count: 8
allele frequency: 6.672672071531044e-5
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2623G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+32G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+32G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52853378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853378
    reference: chr 3
allele count: 159
allele frequency: 1.324955834805506e-3
allele num: 120004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2622C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+31C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+31C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 3.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-52853386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853386
    reference: chr 3
allele count: 5
allele frequency: 4.160149099743735e-5
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2614G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+23G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+23G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-52853387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853387
    reference: chr 3
allele count: 7
allele frequency: 5.822367873837606e-5
allele num: 120226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2613C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+22C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+22C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-52853391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853391
    reference: chr 3
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2609C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+18C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+18C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15861
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-52853394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853394
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853394
    reference: chr 3
allele count: 11
allele frequency: 9.12863070539419e-5
allele num: 120500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+15G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+15G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52853395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853395
    reference: chr 3
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2605C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+14C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-52853399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853399
    reference: chr 3
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2601C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+10C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+10C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

3-52853401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853401
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853401
    reference: chr 3
allele count: 35805
allele frequency: 2.960852738819794e-1
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2599G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+8G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+8G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.75e1
  variant carriers: 3625
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 9.75e1
  variant carriers: 1857
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 4.25e1
  variant carriers: 3265
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 1621
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 2310
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 5.25e1
  variant carriers: 3406
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.75e1
  variant carriers: 2493
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 5.75e1
  variant carriers: 2931
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.75e1
  variant carriers: 694
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 2.75e1
  variant carriers: 818
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.25e1
  variant carriers: 1607
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.25e1
  variant carriers: 898
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 1970
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 1206
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 1
hgvs: c.2077+8G>A
num of homozygotes: 5907
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

3-52853403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853403
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853403
    reference: chr 3
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2597C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+6C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+6C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2077+6C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-52853404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853404
    reference: chr 3
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2269+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.206+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1987+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1559+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2109+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2077+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.274+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1987+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2092+5G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2596G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2077+5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-52853417-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853417
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853417
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1979T>G
  hgvsp: ENSP00000340520.5:p.Leu660Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2069T>G
  hgvsp: ENSP00000266041.4:p.Leu690Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2583T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2084T>G
  hgvsp: ENSP00000417824.1:p.Leu695Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1551T>G
  hgvsp: ENSP00000395634.2:p.Leu518Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.266T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2101T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*269T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2261T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1979T>G
  hgvsp: ENSP00000384425.1:p.Leu660Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.198T>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu690Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52853420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853420
    reference: chr 3
allele count: 45
allele frequency: 3.713606654783125e-4
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2081G>A
  hgvsp: ENSP00000417824.1:p.Arg694His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2066G>A
  hgvsp: ENSP00000266041.4:p.Arg689His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2580G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.195G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2258G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.263G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1976G>A
  hgvsp: ENSP00000340520.5:p.Arg659His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*266G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2098G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1548G>A
  hgvsp: ENSP00000395634.2:p.Arg517His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1976G>A
  hgvsp: ENSP00000384425.1:p.Arg659His
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg689His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-52853421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853421
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.262C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2257C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1975C>T
  hgvsp: ENSP00000340520.5:p.Arg659Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2097C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1975C>T
  hgvsp: ENSP00000384425.1:p.Arg659Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1547C>T
  hgvsp: ENSP00000395634.2:p.Arg517Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2065C>T
  hgvsp: ENSP00000266041.4:p.Arg689Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2579C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2080C>T
  hgvsp: ENSP00000417824.1:p.Arg694Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.194C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*265C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg689Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

3-52853423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853423
    reference: chr 3
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2577G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1973G>A
  hgvsp: ENSP00000340520.5:p.Arg658His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2078G>A
  hgvsp: ENSP00000417824.1:p.Arg693His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2063G>A
  hgvsp: ENSP00000266041.4:p.Arg688His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2255G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*263G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1545G>A
  hgvsp: ENSP00000395634.2:p.Arg516His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.192G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.260G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1973G>A
  hgvsp: ENSP00000384425.1:p.Arg658His
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2095G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg688His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-52853424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853424
    reference: chr 3
allele count: 12
allele frequency: 9.898050084133426e-5
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1972C>T
  hgvsp: ENSP00000340520.5:p.Arg658Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*262C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1972C>T
  hgvsp: ENSP00000384425.1:p.Arg658Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2077C>T
  hgvsp: ENSP00000417824.1:p.Arg693Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1544C>T
  hgvsp: ENSP00000395634.2:p.Arg516Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2062C>T
  hgvsp: ENSP00000266041.4:p.Arg688Cys
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2094C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.259C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2254C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.191C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg688Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-52853462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853462
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853462
    reference: chr 3
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.221C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2056C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1934C>T
  hgvsp: ENSP00000384425.1:p.Pro645Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2039C>T
  hgvsp: ENSP00000417824.1:p.Pro680Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2024C>T
  hgvsp: ENSP00000266041.4:p.Pro675Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.153C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2216C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*224C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2538C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1934C>T
  hgvsp: ENSP00000340520.5:p.Pro645Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1506C>T
  hgvsp: ENSP00000395634.2:p.Pro503Leu
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro675Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-52853469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853469
    reference: chr 3
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.146C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2017C>T
  hgvsp: ENSP00000266041.4:p.Pro673Ser
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*217C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2049C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2032C>T
  hgvsp: ENSP00000417824.1:p.Pro678Ser
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1499C>T
  hgvsp: ENSP00000395634.2:p.Pro501Ser
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1927C>T
  hgvsp: ENSP00000340520.5:p.Pro643Ser
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1927C>T
  hgvsp: ENSP00000384425.1:p.Pro643Ser
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2209C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.214C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2531C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro673Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-52853475-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853475
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.208G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2043G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1921G>C
  hgvsp: ENSP00000384425.1:p.Gly641Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1493G>C
  hgvsp: ENSP00000395634.2:p.Gly499Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2026G>C
  hgvsp: ENSP00000417824.1:p.Gly676Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2203G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.140G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2011G>C
  hgvsp: ENSP00000266041.4:p.Gly671Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1921G>C
  hgvsp: ENSP00000340520.5:p.Gly641Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2525G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*211G>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly671Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-52853476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853476
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853476
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2524T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1920T>C
  hgvsp: ENST00000406595.1:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2010T>C
  hgvsp: ENST00000266041.4:c.2010T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.207T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1920T>C
  hgvsp: ENST00000346281.5:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*210T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.139T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2202T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2025T>C
  hgvsp: ENST00000485816.1:c.2025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2042T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1492T>C
  hgvsp: ENST00000441637.2:c.1492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu670Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-52853477-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853477
    reference: chr 3
allele count: 11
allele frequency: 9.063493894500931e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.138T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2024T>G
  hgvsp: ENSP00000417824.1:p.Leu675Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1919T>G
  hgvsp: ENSP00000384425.1:p.Leu640Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2201T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1919T>G
  hgvsp: ENSP00000340520.5:p.Leu640Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1491T>G
  hgvsp: ENSP00000395634.2:p.Leu498Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*209T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.206T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2523T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2009T>G
  hgvsp: ENSP00000266041.4:p.Leu670Arg
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2041T>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu670Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-52853479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853479
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1489A>G
  hgvsp: ENST00000441637.2:c.1489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2039A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2022A>G
  hgvsp: ENST00000485816.1:c.2022A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.136A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2007A>G
  hgvsp: ENST00000266041.4:c.2007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2199A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2521A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*207A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1917A>G
  hgvsp: ENST00000346281.5:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1917A>G
  hgvsp: ENST00000406595.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.204A>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln669Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-52853480-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853480
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853480
    reference: chr 3
allele count: 7872
allele frequency: 6.486058928218311e-2
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.203A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1916A>T
  hgvsp: ENSP00000340520.5:p.Gln639Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1916A>T
  hgvsp: ENSP00000384425.1:p.Gln639Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1488A>T
  hgvsp: ENSP00000395634.2:p.Gln497Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2038A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.135A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.2006A>T
  hgvsp: ENSP00000266041.4:p.Gln669Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2021A>T
  hgvsp: ENSP00000417824.1:p.Gln674Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2520A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*206A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2198A>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 4.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 9.75e1
  variant carriers: 3295
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 8480
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 8.75e1
  variant carriers: 509
genotype quality: GenotypeQuality
hgvs: p.Gln669Leu
num of homozygotes: 1172
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-52853489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853489
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1997G>A
  hgvsp: ENSP00000266041.4:p.Ser666Asn
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1479G>A
  hgvsp: ENSP00000395634.2:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*197G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1907G>A
  hgvsp: ENSP00000340520.5:p.Ser636Asn
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.194G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.126G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2189G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2511G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1907G>A
  hgvsp: ENSP00000384425.1:p.Ser636Asn
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2012G>A
  hgvsp: ENSP00000417824.1:p.Ser671Asn
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2029G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser666Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-52853490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853490
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2510A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2028A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.125A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2011A>G
  hgvsp: ENSP00000417824.1:p.Ser671Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2188A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1478A>G
  hgvsp: ENSP00000395634.2:p.Ser494Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1996A>G
  hgvsp: ENSP00000266041.4:p.Ser666Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*196A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1906A>G
  hgvsp: ENSP00000340520.5:p.Ser636Gly
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.193A>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1906A>G
  hgvsp: ENSP00000384425.1:p.Ser636Gly
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser666Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

3-52853496-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853496
    reference: chr 3
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2005G>C
  hgvsp: ENSP00000417824.1:p.Val669Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1472G>C
  hgvsp: ENSP00000395634.2:p.Val492Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.187G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1900G>C
  hgvsp: ENSP00000340520.5:p.Val634Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*190G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1990G>C
  hgvsp: ENSP00000266041.4:p.Val664Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1900G>C
  hgvsp: ENSP00000384425.1:p.Val634Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2504G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2022G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.119G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2182G>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val664Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-52853496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853496
    reference: chr 3
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2182G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1900G>A
  hgvsp: ENSP00000340520.5:p.Val634Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1990G>A
  hgvsp: ENSP00000266041.4:p.Val664Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*190G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2005G>A
  hgvsp: ENSP00000417824.1:p.Val669Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1900G>A
  hgvsp: ENSP00000384425.1:p.Val634Ile
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2504G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2022G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.187G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.119G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1472G>A
  hgvsp: ENSP00000395634.2:p.Val492Ile
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val664Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-52853497-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853497
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853497
    reference: chr 3
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.186G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1899G>T
  hgvsp: ENST00000346281.5:c.1899G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*189G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2004G>T
  hgvsp: ENST00000485816.1:c.2004G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1899G>T
  hgvsp: ENST00000406595.1:c.1899G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1471G>T
  hgvsp: ENST00000441637.2:c.1471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1989G>T
  hgvsp: ENST00000266041.4:c.1989G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.118G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2181G>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2503G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2021G>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly663Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-52853498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853498
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853498
    reference: chr 3
allele count: 7
allele frequency: 5.768153202149049e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2003G>A
  hgvsp: ENSP00000417824.1:p.Gly668Glu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1898G>A
  hgvsp: ENSP00000340520.5:p.Gly633Glu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1470G>A
  hgvsp: ENSP00000395634.2:p.Gly491Glu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1988G>A
  hgvsp: ENSP00000266041.4:p.Gly663Glu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.117G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*188G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1898G>A
  hgvsp: ENSP00000384425.1:p.Gly633Glu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2180G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.185G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2502G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2020G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly663Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

3-52853501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853501
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853501
    reference: chr 3
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1467C>T
  hgvsp: ENSP00000395634.2:p.Pro490Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.182C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1985C>T
  hgvsp: ENSP00000266041.4:p.Pro662Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*185C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2499C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2177C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1895C>T
  hgvsp: ENSP00000340520.5:p.Pro632Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1895C>T
  hgvsp: ENSP00000384425.1:p.Pro632Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.2000C>T
  hgvsp: ENSP00000417824.1:p.Pro667Leu
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.114C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2017C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro662Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-52853513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853513
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853513
    reference: chr 3
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2165T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1455T>C
  hgvsp: ENSP00000395634.2:p.Met486Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.170T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1883T>C
  hgvsp: ENSP00000340520.5:p.Met628Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*173T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1883T>C
  hgvsp: ENSP00000384425.1:p.Met628Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1973T>C
  hgvsp: ENSP00000266041.4:p.Met658Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2487T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1988T>C
  hgvsp: ENSP00000417824.1:p.Met663Thr
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2005T>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.102T>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met658Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52853516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853516
    reference: chr 3
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2484G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.99G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1880G>A
  hgvsp: ENSP00000384425.1:p.Arg627Gln
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*170G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1970G>A
  hgvsp: ENSP00000266041.4:p.Arg657Gln
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1880G>A
  hgvsp: ENSP00000340520.5:p.Arg627Gln
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1452G>A
  hgvsp: ENSP00000395634.2:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.167G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1985G>A
  hgvsp: ENSP00000417824.1:p.Arg662Gln
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2002G>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2162G>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg657Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-52853517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853517
    reference: chr 3
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.166C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2161C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1879C>T
  hgvsp: ENSP00000384425.1:p.Arg627Trp
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2483C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*169C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1451C>T
  hgvsp: ENSP00000395634.2:p.Arg485Trp
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.2001C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1969C>T
  hgvsp: ENSP00000266041.4:p.Arg657Trp
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1984C>T
  hgvsp: ENSP00000417824.1:p.Arg662Trp
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1879C>T
  hgvsp: ENSP00000340520.5:p.Arg627Trp
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.98C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg657Trp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-52853519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853519
    reference: chr 3
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1967C>T
  hgvsp: ENSP00000266041.4:p.Ser656Phe
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1877C>T
  hgvsp: ENSP00000340520.5:p.Ser626Phe
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.96C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1999C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1877C>T
  hgvsp: ENSP00000384425.1:p.Ser626Phe
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1982C>T
  hgvsp: ENSP00000417824.1:p.Ser661Phe
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2159C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1449C>T
  hgvsp: ENSP00000395634.2:p.Ser484Phe
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*167C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.164C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2481C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser656Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-52853541-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853541
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.74T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-7T>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2459T>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1952-7T>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

3-52853542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853542
    reference: chr 3
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2458C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-8C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.73C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-8C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1952-8C>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

3-52853548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853548
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853548
    reference: chr 3
allele count: 3
allele frequency: 2.475410918212423e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2452C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.67C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-14C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-14C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-52853548-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853548
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853548
    reference: chr 3
allele count: 3
allele frequency: 2.475410918212423e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2452C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.67C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-14C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-14C>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-52853558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853558
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853558
    reference: chr 3
allele count: 7
allele frequency: 5.778628978998811e-5
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.57C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2442C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-24C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-24C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52853563-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853563
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853563
    reference: chr 3
allele count: 34
allele frequency: 2.807782512469858e-4
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2437G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.52G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-29G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-29G>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

3-52853564-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853564
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853564
    reference: chr 3
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.51A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2436A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-30A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-30A>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-52853565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853565
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853565
    reference: chr 3
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2435G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.50G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-31G>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-31G>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

3-52853569-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853569
    reference: chr 3
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.46C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-35C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2431C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-35C>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-52853573-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853573
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853573
    reference: chr 3
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.42C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2427C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-39C>G
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-39C>G
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-52853576-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853576
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853576
    reference: chr 3
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2424A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.39A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-42A>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-42A>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-52853578-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853578
    reference: chr 3
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2422A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-44A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.37A>C
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-44A>C
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-52853581-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853581
    reference: chr 3
allele count: 17
allele frequency: 1.405655697039855e-4
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000461966
  gene symbol: ITIH4
  hgvsc: ENST00000461966.1:n.34C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2144-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*152-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.149-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1984-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2419C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1967-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1952-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-47C>A
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-47C>A
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

3-52853719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853719
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853719
    reference: chr 3
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*151+51C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-185C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2281C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-185C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1951+51C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1983+51C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1966+51C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-185C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.148+51C>T
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2143+51C>T
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46074
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

3-52853721-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853721
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853722
    reference: chr 3
allele count: 16
allele frequency: 1.32013201320132e-4
allele num: 121200
alternate allele: TC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000266041
  ensembl transcript: ENST00000266041
  gene symbol: ITIH4
  hgvsc: ENST00000266041.4:c.1951+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000384425
  ensembl transcript: ENST00000406595
  gene symbol: ITIH4
  hgvsc: ENST00000406595.1:c.1862-188dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000537897
  gene symbol: ITIH4
  hgvsc: ENST00000537897.1:n.1983+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000440036
  ensembl transcript: ENST00000434759
  gene symbol: ITIH4
  hgvsc: ENST00000434759.3:c.*151+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2143+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000417824
  ensembl transcript: ENST00000485816
  gene symbol: ITIH4
  hgvsc: ENST00000485816.1:c.1966+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2278dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000340520
  ensembl transcript: ENST00000346281
  gene symbol: ITIH4
  hgvsc: ENST00000346281.5:c.1862-188dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000481977
  gene symbol: ITIH4
  hgvsc: ENST00000481977.1:n.148+48dupG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl protein: ENSP00000395634
  ensembl transcript: ENST00000441637
  gene symbol: ITIH4
  hgvsc: ENST00000441637.2:c.1434-188dupG
  variant of: http://identifiers.org/hgnc/6169
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46062
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-52853721-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52853721
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52853720
    reference: chr 3
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000055955
  ensembl transcript: ENST00000491663
  gene symbol: ITIH4
  hgvsc: ENST00000491663.1:n.2143+48delG
  variant of: http://identifiers.org/hgnc/6169
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.*2278delG
canonical: true
consequence: 3' UTR
filter: PASS
num of homozygotes: 0
reference allele: TC

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.395604395604396e-4
allele num: 4550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.743679163034002e-4
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

FS
type: SiteQuality
SIO_000300: 4.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

DP
type: SiteQuality
SIO_000300: 1.07749e6

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.67e-2

GenotypeQuality
all individuals: 606
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.586800573888092e-4
allele num: 2788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

FS
type: SiteQuality
SIO_000300: 2.098e0

QD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.082852e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.819e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 608
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.600509699901181e-5
allele num: 38454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.846e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

DP
type: SiteQuality
SIO_000300: 1.092859e6

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12236
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4178
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.558460829964693e-5
allele num: 39086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.099555e6

QD
type: SiteQuality
SIO_000300: 2.168e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 6.073489219556636e-4
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39222
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 3.326e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.098677e6

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeQuality
all individuals: 1436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1521
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.561212990472288e-5
allele num: 39044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.261e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.638e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

DP
type: SiteQuality
SIO_000300: 1.0944e6

GenotypeQuality
all individuals: 10661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 721
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.012882447665056e-4
allele num: 4968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

DP
type: SiteQuality
SIO_000300: 1.095458e6

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 16497
bin: 2.25e1
variant carriers: 543

GenotypeQuality
all individuals: 803
bin: 4.75e1
variant carriers: 607

GenotypeQuality
all individuals: 819
bin: 7.75e1
variant carriers: 380

GenotypeQuality
all individuals: 521
bin: 4.25e1
variant carriers: 351

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 544

GenotypeQuality
all individuals: 2201
bin: 2.5e0
variant carriers: 104

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 525

GenotypeQuality
all individuals: 547
bin: 1.25e1
variant carriers: 225

GenotypeQuality
all individuals: 1465
bin: 2.75e1
variant carriers: 405

GenotypeQuality
all individuals: 799
bin: 5.25e1
variant carriers: 528

GenotypeQuality
all individuals: 665
bin: 7.25e1
variant carriers: 313

GenotypeQuality
all individuals: 1398
bin: 6.75e1
variant carriers: 431

GenotypeQuality
all individuals: 19644
bin: 9.75e1
variant carriers: 17778

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 431

GenotypeQuality
all individuals: 7195
bin: 6.25e1
variant carriers: 465

Latino
type: Population
allele count: 4363
allele frequency: 5.464679358717435e-1
allele num: 7984
num of homozygotes: 1042

European (Non-Finnish)
type: Population
allele count: 14395
allele frequency: 3.258261656858307e-1
allele num: 44180
num of homozygotes: 1761

South Asian
type: Population
allele count: 1686
allele frequency: 1.459234897005366e-1
allele num: 11554
num of homozygotes: 114

European (Finnish)
type: Population
allele count: 1182
allele frequency: 3.507418397626113e-1
allele num: 3370
num of homozygotes: 151

African
type: Population
allele count: 1696
allele frequency: 2.459396751740139e-1
allele num: 6896
num of homozygotes: 175

East Asian
type: Population
allele count: 2103
allele frequency: 3.640927977839335e-1
allele num: 5776
num of homozygotes: 277

Other
type: Population
allele count: 180
allele frequency: 3.125e-1
allele num: 576
num of homozygotes: 24

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

DP
type: SiteQuality
SIO_000300: 1.309752e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

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

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2075
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10013
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.783654381471996e-5
allele num: 35924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.128e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 9.86746e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4000
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32914
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.972386587771203e-4
allele num: 5070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.112e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 1.721e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.65944e5

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.005631536604988e-4
allele num: 9944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 8.52445e5

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

GenotypeQuality
all individuals: 2015
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.48e-2

FS
type: SiteQuality
SIO_000300: 6.788e0

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 8.41942e5

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1987
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.550462726809007e-4
allele num: 27446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 8.36677e5

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeQuality
all individuals: 1627
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.11333778668448e-4
allele num: 8982
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.108e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 7.42581e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

GenotypeQuality
all individuals: 14482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4934
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.532332209623046e-4
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527090587013621e-5
allele num: 65484
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.856342e6

QD
type: SiteQuality
SIO_000300: 4.25e0

FS
type: SiteQuality
SIO_000300: 1.915e0

VQSLOD
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 4375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525413387027885e-5
allele num: 65556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.871418e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 9.432e0

VQSLOD
type: SiteQuality
SIO_000300: -1.888e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 6260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1908
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
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 137

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 136
allele frequency: 8.297742525930445e-3
allele num: 16390
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053435114503817e-5
allele num: 65500
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.325040688212044e-4
allele num: 8602
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.875346e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 12578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3289
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3624
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 239
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variant carriers: 2

GenotypeQuality
all individuals: 79
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variant carriers: 1

GenotypeQuality
all individuals: 1065
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 102
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6331
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variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15390
bin: 9.75e1
variant carriers: 1160

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 5

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.004464285714286e-2
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 34
allele frequency: 3.3067496595993e-3
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 29
allele frequency: 4.438322620140802e-3
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 959
allele frequency: 1.462871438159741e-2
allele num: 65556
num of homozygotes: 8

South Asian
type: Population
allele count: 59
allele frequency: 3.595368677635588e-3
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 99
allele frequency: 8.613189490168784e-3
allele num: 11494
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 1.858e0

DP
type: SiteQuality
SIO_000300: 1.887218e6

GenotypeQuality
all individuals: 967
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14745
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 1042
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variant carriers: 0

GenotypeQuality
all individuals: 887
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 578
bin: 5.25e1
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GenotypeQuality
all individuals: 2411
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6549
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variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 4.964e1

DP
type: SiteQuality
SIO_000300: 1.89805e6

MQRankSum
type: SiteQuality
SIO_000300: -1.855e0

FS
type: SiteQuality
SIO_000300: 2.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
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GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5127
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variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 8.75e1
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GenotypeQuality
all individuals: 14772
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 7
allele frequency: 8.133860097606321e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 6.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

DP
type: SiteQuality
SIO_000300: 1.911706e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6807
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
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variant carriers: 0

GenotypeQuality
all individuals: 5200
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variant carriers: 0

GenotypeQuality
all individuals: 3478
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variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14935
bin: 9.75e1
variant carriers: 158

GenotypeQuality
all individuals: 801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.328542719688204e-4
allele num: 65684
num of homozygotes: 0

African
type: Population
allele count: 114
allele frequency: 1.107871720116618e-2
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.94806322737537e-4
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.921068e6

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 15653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14923
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6990
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 3.169e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

DP
type: SiteQuality
SIO_000300: 1.94146e6

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14944
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.076626257102057e-5
allele num: 65826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 2.999e0

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 1.945435e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

GenotypeQuality
all individuals: 2609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 5.25e1
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GenotypeQuality
all individuals: 4052
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.756999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

DP
type: SiteQuality
SIO_000300: 1.954038e6

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3672
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.211680600993578e-4
allele num: 66024
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.960048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 2643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.963416e6

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7244
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GenotypeQuality
all individuals: 15100
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

DP
type: SiteQuality
SIO_000300: 1.967354e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.858e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 42

GenotypeQuality
all individuals: 29
bin: 7.5e0
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GenotypeQuality
all individuals: 3709
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variant carriers: 59

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 42

GenotypeQuality
all individuals: 2910
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variant carriers: 87

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 19

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 1473
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variant carriers: 87

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 36472
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variant carriers: 29114

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 89
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variant carriers: 38

GenotypeQuality
all individuals: 2153
bin: 7.25e1
variant carriers: 69

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2740
bin: 8.25e1
variant carriers: 109

GenotypeQuality
all individuals: 2052
bin: 9.25e1
variant carriers: 143

GenotypeQuality
all individuals: 8345
bin: 6.25e1
variant carriers: 49

Latino
type: Population
allele count: 1724
allele frequency: 1.494193101057376e-1
allele num: 11538
num of homozygotes: 144

European (Non-Finnish)
type: Population
allele count: 24681
allele frequency: 3.717018072289157e-1
allele num: 66400
num of homozygotes: 4548

South Asian
type: Population
allele count: 4327
allele frequency: 2.622742150563705e-1
allele num: 16498
num of homozygotes: 571

Other
type: Population
allele count: 284
allele frequency: 3.141592920353982e-1
allele num: 904
num of homozygotes: 44

East Asian
type: Population
allele count: 601
allele frequency: 6.967308138186877e-2
allele num: 8626
num of homozygotes: 19

African
type: Population
allele count: 1871
allele frequency: 1.805287533770745e-1
allele num: 10364
num of homozygotes: 173

European (Finnish)
type: Population
allele count: 2317
allele frequency: 3.511670203091846e-1
allele num: 6598
num of homozygotes: 408

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

FS
type: SiteQuality
SIO_000300: 1.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.636e0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

DP
type: SiteQuality
SIO_000300: 2.726787e6

QD
type: SiteQuality
SIO_000300: 1.671e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 108
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1935
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GenotypeQuality
all individuals: 4595
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 2.602574e6

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.751e0

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 2608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 30737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.095e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

FS
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 2.603099e6

GenotypeQuality
all individuals: 3550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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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: 7
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 3371
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1964
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GenotypeQuality
all individuals: 10621
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GenotypeQuality
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GenotypeQuality
all individuals: 4623
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.606885e6

VQSLOD
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SIO_000300: 1.46e-1

MQRankSum
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SIO_000300: -1.05e-1

QD
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SIO_000300: 8.869999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.408491331390283e-4
allele num: 66562
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
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SIO_000300: -4.92e-1

FS
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SIO_000300: 1.361e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
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SIO_000300: 2.77e-1

DP
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SIO_000300: 2.608876e6

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1967
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

DP
type: SiteQuality
SIO_000300: 2.609178e6

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 4.101e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10644
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variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.895e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

QD
type: SiteQuality
SIO_000300: 1.527e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

DP
type: SiteQuality
SIO_000300: 2.609895e6

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2730
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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: 105
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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: 3554
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variant carriers: 0

GenotypeQuality
all individuals: 30806
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variant carriers: 12

GenotypeQuality
all individuals: 1968
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variant carriers: 0

GenotypeQuality
all individuals: 4623
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005464973125544e-5
allele num: 66606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.610801e6

FS
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 3582
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 1981
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2652
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GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 906
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MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
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SIO_000300: -2.108e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

DP
type: SiteQuality
SIO_000300: 2.615122e6

FS
type: SiteQuality
SIO_000300: 5.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 4
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variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.615538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.425e0

VQSLOD
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SIO_000300: -2.002e0

DP
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.108e0

QD
type: SiteQuality
SIO_000300: 8.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 1.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -5.888e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.615693e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30871
bin: 9.75e1
variant carriers: 11

African
type: Population
allele count: 11
allele frequency: 1.057488944433763e-3
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.616339e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.617e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

GenotypeQuality
all individuals: 10738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 1.389e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

DP
type: SiteQuality
SIO_000300: 2.616378e6

GenotypeQuality
all individuals: 3061
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1744
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2403
bin: 9.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3914
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2944
bin: 8.25e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 35146
bin: 9.75e1
variant carriers: 6687

GenotypeQuality
all individuals: 2237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9174
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 104
allele frequency: 1.20203421174295e-2
allele num: 8652
num of homozygotes: 1

South Asian
type: Population
allele count: 3724
allele frequency: 2.255329457364341e-1
allele num: 16512
num of homozygotes: 486

African
type: Population
allele count: 3747
allele frequency: 3.600807226600038e-1
allele num: 10406
num of homozygotes: 681

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

Other
type: Population
allele count: 33
allele frequency: 3.642384105960265e-2
allele num: 906
num of homozygotes: 1

Latino
type: Population
allele count: 188
allele frequency: 1.624049758120249e-2
allele num: 11576
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 76
allele frequency: 1.13939612005637e-3
allele num: 66702
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 3.02363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.503e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: 1.048e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2998
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10501
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.51e0

FS
type: SiteQuality
SIO_000300: 6.675e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

VQSLOD
type: SiteQuality
SIO_000300: -1.275e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.825711e6

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

GenotypeQuality
all individuals: 2441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2995
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.793e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.574e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 2.825742e6

QD
type: SiteQuality
SIO_000300: 1.51e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33133
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 2992
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.123e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 2.825961e6

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 1.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 33133
bin: 9.75e1
variant carriers: 3

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: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10499
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498695378340282e-5
allele num: 66686
num of homozygotes: 0

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

Other
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allele count: 0
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African
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allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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FS
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SIO_000300: 1.783e0

ReadPosRankSum
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SIO_000300: 4.5e-2

MQ
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ClippingRankSum
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QD
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SIO_000300: 1.123e1

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

African
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: 2.71e-1

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

European (Finnish)
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num of homozygotes: 0

Other
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 66684
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Latino
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MQ
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SIO_000300: 5.978e1

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

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

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

Other
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Latino
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500600240096038e-5
allele num: 66640
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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South Asian
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European (Non-Finnish)
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allele num: 66624
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Other
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East Asian
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African
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele num: 66602
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Latino
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Other
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.795898e6

InbreedingCoeff
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SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.364e-1

BaseQRankSum
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SIO_000300: -2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.891e1

FS
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 33138
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
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FS
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SIO_000300: 8.05e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
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ClippingRankSum
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SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.146e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 3.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 2.788227e6

QD
type: SiteQuality
SIO_000300: 1.073e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.833e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.786217e6

FS
type: SiteQuality
SIO_000300: 2.614e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 2959
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GenotypeQuality
all individuals: 95
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.785459e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -6.322e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 7.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.253267237494367e-4
allele num: 66570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

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

BaseQRankSum
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SIO_000300: -2.453e0

ClippingRankSum
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SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 2.785262e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

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

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

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
all individuals: 455
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.101912740593941e-4
allele num: 66606
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.21447656060238e-4
allele num: 16468
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 8.328057e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.953e1