5-176951744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951744
    reference: chr 5
allele count: 1
allele frequency: 1.113114717602796e-5
allele num: 89838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.745G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.794G>A
  hgvsp: ENSP00000432463.1:p.Glu266Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.616G>A
  hgvsp: ENSP00000332014.5:p.Glu206Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1639G>A
  hgvsp: ENSP00000410098.2:p.Glu547Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1265G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*789G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1738G>A
  hgvsp: ENSP00000422131.1:p.Glu580Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2968G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15017
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu580Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-176951745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951745
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951745
    reference: chr 5
allele count: 1
allele frequency: 1.11884356329298e-5
allele num: 89378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1638C>T
  hgvsp: ENST00000443375.2:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*788C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.793C>T
  hgvsp: ENST00000524677.1:c.793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1264C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1737C>T
  hgvsp: ENST00000514747.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.744C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2967C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.615C>T
  hgvsp: ENST00000329540.5:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro579Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

5-176951751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951751
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951751
    reference: chr 5
allele count: 1
allele frequency: 1.163358849670769e-5
allele num: 85958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.609C>T
  hgvsp: ENST00000329540.5:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2961C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*782C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1258C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1731C>T
  hgvsp: ENST00000514747.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1632C>T
  hgvsp: ENST00000443375.2:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.787C>T
  hgvsp: ENST00000524677.1:c.787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.738C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile577Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

5-176951756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951756
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951756
    reference: chr 5
allele count: 4
allele frequency: 4.788584015706555e-5
allele num: 83532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*777G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.733G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.782G>A
  hgvsp: ENSP00000432463.1:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.604G>A
  hgvsp: ENSP00000332014.5:p.Gly202Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1627G>A
  hgvsp: ENSP00000410098.2:p.Gly543Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1726G>A
  hgvsp: ENSP00000422131.1:p.Gly576Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2956G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1253G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Gly576Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-176951757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951757
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951757
    reference: chr 5
allele count: 1
allele frequency: 1.200537840952747e-5
allele num: 83296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.781C>T
  hgvsp: ENST00000524677.1:c.781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2955C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1626C>T
  hgvsp: ENST00000443375.2:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1725C>T
  hgvsp: ENST00000514747.1:c.1725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*776C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.732C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.603C>T
  hgvsp: ENST00000329540.5:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro575Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

5-176951768-CCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951765
    reference: chr 5
allele count: 2
allele frequency: 2.503066256163801e-5
allele num: 79902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.589_591delAGG
  hgvsp: ENSP00000332014.5:p.Arg197del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1238_*1240delAGG
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2941_*2943delAGG
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1711_1713delAGG
  hgvsp: ENSP00000422131.1:p.Arg571del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*762_*764delAGG
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.718_720delAGG
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.767_769delAGG
  hgvsp: ENSP00000432463.1:p.Arg257del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1612_1614delAGG
  hgvsp: ENSP00000410098.2:p.Arg538del
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20782
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg571del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: CCCT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/5-176951783-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951783
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951783
    reference: chr 5
allele count: 1
allele frequency: 1.309140418401278e-5
allele num: 76386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1699T>G
  hgvsp: ENSP00000422131.1:p.Trp567Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2929T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.755T>G
  hgvsp: ENSP00000432463.1:p.Trp253Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.706T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*750T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1600T>G
  hgvsp: ENSP00000410098.2:p.Trp534Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1226T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.577T>G
  hgvsp: ENSP00000332014.5:p.Trp193Gly
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp567Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

5-176951783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951783
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951783
    reference: chr 5
allele count: 11
allele frequency: 1.440054460241406e-4
allele num: 76386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.577T>C
  hgvsp: ENSP00000332014.5:p.Trp193Arg
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1600T>C
  hgvsp: ENSP00000410098.2:p.Trp534Arg
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1226T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1699T>C
  hgvsp: ENSP00000422131.1:p.Trp567Arg
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*750T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.755T>C
  hgvsp: ENSP00000432463.1:p.Trp253Arg
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.706T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2929T>C
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp567Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-176951813-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951813
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951813
    reference: chr 5
allele count: 1
allele frequency: 1.362397820163488e-5
allele num: 73400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.676T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1669T>G
  hgvsp: ENSP00000422131.1:p.Trp557Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1570T>G
  hgvsp: ENSP00000410098.2:p.Trp524Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1196T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.725T>G
  hgvsp: ENSP00000432463.1:p.Trp243Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*720T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2899T>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.547T>G
  hgvsp: ENSP00000332014.5:p.Trp183Gly
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20831
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp557Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

5-176951814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951814
    reference: chr 5
allele count: 2
allele frequency: 2.750804610348527e-5
allele num: 72706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*719A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1569A>G
  hgvsp: ENST00000443375.2:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1195A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2898A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.724A>G
  hgvsp: ENST00000524677.1:c.724A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1668A>G
  hgvsp: ENST00000514747.1:c.1668A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.675A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.546A>G
  hgvsp: ENST00000329540.5:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20744
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro556Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

5-176951828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951828
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951828
    reference: chr 5
allele count: 2
allele frequency: 2.815711671124877e-5
allele num: 71030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1181G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1654G>A
  hgvsp: ENSP00000422131.1:p.Glu552Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1555G>A
  hgvsp: ENSP00000410098.2:p.Glu519Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*705G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.661G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.532G>A
  hgvsp: ENSP00000332014.5:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.710G>A
  hgvsp: ENSP00000432463.1:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2884G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu552Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-176951829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951829
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951829
    reference: chr 5
allele count: 2
allele frequency: 2.823981248764508e-5
allele num: 70822
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1653C>T
  hgvsp: ENST00000514747.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.709C>T
  hgvsp: ENST00000524677.1:c.709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.531C>T
  hgvsp: ENST00000329540.5:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*704C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.660C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2883C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1554C>T
  hgvsp: ENST00000443375.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1180C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly551Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

5-176951829-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951829
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951829
    reference: chr 5
allele count: 2
allele frequency: 2.823981248764508e-5
allele num: 70822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.531C>A
  hgvsp: ENST00000329540.5:c.531C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*704C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.660C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1653C>A
  hgvsp: ENST00000514747.1:c.1653C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2883C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1554C>A
  hgvsp: ENST00000443375.2:c.1554C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1180C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.709C>A
  hgvsp: ENST00000524677.1:c.709C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19592
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly551Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

5-176951836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951836
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951836
    reference: chr 5
allele count: 1
allele frequency: 1.382705124305191e-5
allele num: 72322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2876C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.524C>T
  hgvsp: ENSP00000332014.5:p.Ala175Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1547C>T
  hgvsp: ENSP00000410098.2:p.Ala516Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.702C>T
  hgvsp: ENSP00000432463.1:p.Ala235Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1646C>T
  hgvsp: ENSP00000422131.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1173C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.653C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala549Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-176951840-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951840
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951840
    reference: chr 5
allele count: 1
allele frequency: 1.374268202182338e-5
allele num: 72766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.698C>G
  hgvsp: ENSP00000432463.1:p.Gln234Glu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*693C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.649C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1642C>G
  hgvsp: ENSP00000422131.1:p.Gln548Glu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1169C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1543C>G
  hgvsp: ENSP00000410098.2:p.Gln515Glu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2872C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.520C>G
  hgvsp: ENSP00000332014.5:p.Gln174Glu
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8472
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln548Glu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

5-176951844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951844
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951844
    reference: chr 5
allele count: 1
allele frequency: 1.365299546720551e-5
allele num: 73244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1638G>A
  hgvsp: ENST00000514747.1:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.694G>A
  hgvsp: ENST00000524677.1:c.694G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.645G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.516G>A
  hgvsp: ENST00000329540.5:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1539G>A
  hgvsp: ENST00000443375.2:c.1539G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2868G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1165G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*689G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr546Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-176951845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951845
    reference: chr 5
allele count: 1
allele frequency: 1.358437253783248e-5
allele num: 73614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1164C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1637C>T
  hgvsp: ENSP00000422131.1:p.Thr546Met
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1538C>T
  hgvsp: ENSP00000410098.2:p.Thr513Met
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*688C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.693C>T
  hgvsp: ENSP00000432463.1:p.Thr232Met
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2867C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.644C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.515C>T
  hgvsp: ENSP00000332014.5:p.Thr172Met
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr546Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-176951846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951846
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 73966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.692A>G
  hgvsp: ENSP00000432463.1:p.Thr232Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2866A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.514A>G
  hgvsp: ENSP00000332014.5:p.Thr172Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1636A>G
  hgvsp: ENSP00000422131.1:p.Thr546Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1163A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1537A>G
  hgvsp: ENSP00000410098.2:p.Thr513Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.643A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*687A>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr546Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-176951849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951849
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951849
    reference: chr 5
allele count: 1
allele frequency: 1.340554453321894e-5
allele num: 74596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.689C>T
  hgvsp: ENSP00000432463.1:p.His231Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.511C>T
  hgvsp: ENSP00000332014.5:p.His171Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*684C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1534C>T
  hgvsp: ENSP00000410098.2:p.His512Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1160C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.640C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1633C>T
  hgvsp: ENSP00000422131.1:p.His545Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2863C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His545Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

5-176951867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951867
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951867
    reference: chr 5
allele count: 28
allele frequency: 3.47015665278604e-4
allele num: 80688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2845T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.622T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1516T>C
  hgvsp: ENST00000443375.2:c.1516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.493T>C
  hgvsp: ENST00000329540.5:c.493T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1142T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1615T>C
  hgvsp: ENST00000514747.1:c.1615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.671T>C
  hgvsp: ENST00000524677.1:c.671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*666T>C
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Leu539Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-176951888-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951888
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951888
    reference: chr 5
allele count: 1
allele frequency: 1.101904090267983e-5
allele num: 90752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.472C>G
  hgvsp: ENSP00000332014.5:p.Leu158Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.601C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1495C>G
  hgvsp: ENSP00000410098.2:p.Leu499Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.650C>G
  hgvsp: ENSP00000432463.1:p.Leu218Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*645C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1121C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1594C>G
  hgvsp: ENSP00000422131.1:p.Leu532Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2824C>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu532Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS

5-176951890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951890
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951890
    reference: chr 5
allele count: 1
allele frequency: 1.092728981358044e-5
allele num: 91514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.599A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1592A>G
  hgvsp: ENSP00000422131.1:p.Asn531Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.648A>G
  hgvsp: ENSP00000432463.1:p.Asn217Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1493A>G
  hgvsp: ENSP00000410098.2:p.Asn498Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1119A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.470A>G
  hgvsp: ENSP00000332014.5:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*643A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2822A>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn531Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-176951911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951911
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951911
    reference: chr 5
allele count: 2
allele frequency: 1.992428770671449e-5
allele num: 100380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*622C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.578C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1098C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2801C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.627C>T
  hgvsp: ENSP00000432463.1:p.Ser210Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1571C>T
  hgvsp: ENSP00000422131.1:p.Ser524Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.449C>T
  hgvsp: ENSP00000332014.5:p.Ser150Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1472C>T
  hgvsp: ENSP00000410098.2:p.Ser491Leu
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40316
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser524Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

5-176951914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951914
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951914
    reference: chr 5
allele count: 1358
allele frequency: 1.33674574269121e-2
allele num: 101590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.624C>T
  hgvsp: ENSP00000432463.1:p.Ser209Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2798C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.575C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.446C>T
  hgvsp: ENSP00000332014.5:p.Ser149Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*619C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1568C>T
  hgvsp: ENSP00000422131.1:p.Ser523Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1469C>T
  hgvsp: ENSP00000410098.2:p.Ser490Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1095C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 2.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 35005
  bin: 2.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40161
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Ser523Phe
num of homozygotes: 18
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-176951920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951920
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951920
    reference: chr 5
allele count: 2
allele frequency: 1.931732570942879e-5
allele num: 103534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1089G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2792G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1562G>A
  hgvsp: ENSP00000422131.1:p.Ser521Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1463G>A
  hgvsp: ENSP00000410098.2:p.Ser488Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.440G>A
  hgvsp: ENSP00000332014.5:p.Ser147Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.618G>A
  hgvsp: ENSP00000432463.1:p.Ser207Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*613G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.569G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser521Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

5-176951931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951931
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951931
    reference: chr 5
allele count: 1
allele frequency: 9.438592517083852e-6
allele num: 105948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.607C>G
  hgvsp: ENST00000524677.1:c.607C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1551C>G
  hgvsp: ENST00000514747.1:c.1551C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*602C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.429C>G
  hgvsp: ENST00000329540.5:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1078C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2781C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1452C>G
  hgvsp: ENST00000443375.2:c.1452C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.558C>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro517Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-176951932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951932
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951932
    reference: chr 5
allele count: 1
allele frequency: 9.418324291742013e-6
allele num: 106176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.428C>A
  hgvsp: ENSP00000332014.5:p.Pro143His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.557C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2780C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1451C>A
  hgvsp: ENSP00000410098.2:p.Pro484His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1077C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1550C>A
  hgvsp: ENSP00000422131.1:p.Pro517His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.606C>A
  hgvsp: ENSP00000432463.1:p.Pro203His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*601C>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro517His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

5-176951933-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951933
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951933
    reference: chr 5
allele count: 6
allele frequency: 5.639521768554027e-5
allele num: 106392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2779C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1549C>G
  hgvsp: ENSP00000422131.1:p.Pro517Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1076C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.427C>G
  hgvsp: ENSP00000332014.5:p.Pro143Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.556C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1450C>G
  hgvsp: ENSP00000410098.2:p.Pro484Ala
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*600C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.605C>G
  hgvsp: ENSP00000432463.1:p.Pro203Ala
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro517Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-176951933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951933
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951933
    reference: chr 5
allele count: 1
allele frequency: 9.399202947590044e-6
allele num: 106392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.427C>A
  hgvsp: ENSP00000332014.5:p.Pro143Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.556C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1450C>A
  hgvsp: ENSP00000410098.2:p.Pro484Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1076C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2779C>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1549C>A
  hgvsp: ENSP00000422131.1:p.Pro517Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.605C>A
  hgvsp: ENSP00000432463.1:p.Pro203Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*600C>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro517Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-176951936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951936
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951936
    reference: chr 5
allele count: 2
allele frequency: 1.873676715819453e-5
allele num: 106742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.424C>T
  hgvsp: ENSP00000332014.5:p.Pro142Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1447C>T
  hgvsp: ENSP00000410098.2:p.Pro483Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2776C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1073C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.553C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*597C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1546C>T
  hgvsp: ENSP00000422131.1:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.602C>T
  hgvsp: ENSP00000432463.1:p.Pro202Ser
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro516Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

5-176951937-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951937
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951938
    reference: chr 5
allele count: 1
allele frequency: 9.36136750856565e-6
allele num: 106822
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*595dupT
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1445dupT
  hgvsp: ENSP00000410098.2:p.Pro483ThrfsTer14
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1544dupT
  hgvsp: ENSP00000422131.1:p.Pro516ThrfsTer14
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2774dupT
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.551dupT
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.600dupT
  hgvsp: ENSP00000432463.1:p.Pro202ThrfsTer14
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.422dupT
  hgvsp: ENSP00000332014.5:p.Pro142ThrfsTer14
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1071dupT
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro516ThrfsTer14
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

5-176951947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951947
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951947
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 108216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.413C>T
  hgvsp: ENSP00000332014.5:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2765C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*586C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1436C>T
  hgvsp: ENSP00000410098.2:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1062C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1535C>T
  hgvsp: ENSP00000422131.1:p.Pro512Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.591C>T
  hgvsp: ENSP00000432463.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.542C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro512Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-176951957-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951957
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951957
    reference: chr 5
allele count: 1
allele frequency: 9.161871953677575e-6
allele num: 109148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1426G>T
  hgvsp: ENSP00000410098.2:p.Glu476Ter
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*576G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.403G>T
  hgvsp: ENSP00000332014.5:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.581G>T
  hgvsp: ENSP00000432463.1:p.Glu195Ter
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1052G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1525G>T
  hgvsp: ENSP00000422131.1:p.Glu509Ter
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2755G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.532G>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu509Ter
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-176951960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951960
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951960
    reference: chr 5
allele count: 2
allele frequency: 1.828755349109396e-5
allele num: 109364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.578G>C
  hgvsp: ENSP00000432463.1:p.Ala194Pro
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1522G>C
  hgvsp: ENSP00000422131.1:p.Ala508Pro
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*573G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1423G>C
  hgvsp: ENSP00000410098.2:p.Ala475Pro
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2752G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1049G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.529G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.400G>C
  hgvsp: ENSP00000332014.5:p.Ala134Pro
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala508Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-176951964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951964
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951964
    reference: chr 5
allele count: 24
allele frequency: 2.190180689906917e-4
allele num: 109580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.525G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1419G>A
  hgvsp: ENST00000443375.2:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1518G>A
  hgvsp: ENST00000514747.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.574G>A
  hgvsp: ENST00000524677.1:c.574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1045G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.396G>A
  hgvsp: ENST00000329540.5:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2748G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly506Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

5-176951983-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951983
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951983
    reference: chr 5
allele count: 2
allele frequency: 1.818446319464649e-5
allele num: 109984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.506A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.377A>T
  hgvsp: ENSP00000332014.5:p.Asn126Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2729A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.555A>T
  hgvsp: ENSP00000432463.1:p.Asn186Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1499A>T
  hgvsp: ENSP00000422131.1:p.Asn500Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1400A>T
  hgvsp: ENSP00000410098.2:p.Asn467Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*550A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1026A>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn500Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-176951983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951983
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951983
    reference: chr 5
allele count: 1
allele frequency: 9.092231597323247e-6
allele num: 109984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*550A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1499A>G
  hgvsp: ENSP00000422131.1:p.Asn500Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.377A>G
  hgvsp: ENSP00000332014.5:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1400A>G
  hgvsp: ENSP00000410098.2:p.Asn467Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2729A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.506A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1026A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.555A>G
  hgvsp: ENSP00000432463.1:p.Asn186Ser
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn500Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-176951987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951987
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951987
    reference: chr 5
allele count: 1
allele frequency: 9.086283346659882e-6
allele num: 110056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.551A>G
  hgvsp: ENSP00000432463.1:p.Ser185Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1495A>G
  hgvsp: ENSP00000422131.1:p.Ser499Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.502A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.373A>G
  hgvsp: ENSP00000332014.5:p.Ser125Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1022A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*546A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1396A>G
  hgvsp: ENSP00000410098.2:p.Ser466Gly
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2725A>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser499Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

5-176951991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951991
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951991
    reference: chr 5
allele count: 1
allele frequency: 9.081662307468759e-6
allele num: 110112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1491G>A
  hgvsp: ENSP00000422131.1:p.Met497Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.369G>A
  hgvsp: ENSP00000332014.5:p.Met123Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.498G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.547G>A
  hgvsp: ENSP00000432463.1:p.Met183Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*542G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2721G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1392G>A
  hgvsp: ENSP00000410098.2:p.Met464Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1018G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met497Ile
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: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-176951994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176951994
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951994
    reference: chr 5
allele count: 196
allele frequency: 1.77923021060276e-3
allele num: 110160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.495C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.366C>T
  hgvsp: ENST00000329540.5:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1488C>T
  hgvsp: ENST00000514747.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*539C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1015C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1389C>T
  hgvsp: ENST00000443375.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.544C>T
  hgvsp: ENST00000524677.1:c.544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2718C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ser496Ser
num of homozygotes: 3
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

5-176952001-TCACACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952001
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176951995
    reference: chr 5
allele count: 1
allele frequency: 9.065689989665113e-6
allele num: 110306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.531_536delTGTGTG
  hgvsp: ENSP00000432463.1:p.Val178_Cys179del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1376_1381delTGTGTG
  hgvsp: ENSP00000410098.2:p.Val459_Cys460del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.353_358delTGTGTG
  hgvsp: ENSP00000332014.5:p.Val118_Cys119del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*526_*531delTGTGTG
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1475_1480delTGTGTG
  hgvsp: ENSP00000422131.1:p.Val492_Cys493del
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.482_487delTGTGTG
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val492_Cys493del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: TCACACA
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

5-176952004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952004
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952004
    reference: chr 5
allele count: 2
allele frequency: 1.812053781756243e-5
allele num: 110372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*1005G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1478G>A
  hgvsp: ENSP00000422131.1:p.Cys493Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.534G>A
  hgvsp: ENSP00000432463.1:p.Cys179Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.356G>A
  hgvsp: ENSP00000332014.5:p.Cys119Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*529G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1379G>A
  hgvsp: ENSP00000410098.2:p.Cys460Tyr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.485G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2708G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys493Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-176952012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952012
    reference: chr 5
allele count: 1
allele frequency: 9.038322487346349e-6
allele num: 110640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.526C>G
  hgvsp: ENSP00000432463.1:p.Phe176Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1470C>G
  hgvsp: ENSP00000422131.1:p.Phe490Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.348C>G
  hgvsp: ENSP00000332014.5:p.Phe116Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1371C>G
  hgvsp: ENSP00000410098.2:p.Phe457Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.477C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2700C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*997C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*521C>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe490Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

5-176952019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952019
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952019
    reference: chr 5
allele count: 1
allele frequency: 9.017132551848512e-6
allele num: 110900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2693C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.519C>T
  hgvsp: ENSP00000432463.1:p.Ala174Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1463C>T
  hgvsp: ENSP00000422131.1:p.Ala488Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.470C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.341C>T
  hgvsp: ENSP00000332014.5:p.Ala114Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*514C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1364C>T
  hgvsp: ENSP00000410098.2:p.Ala455Val
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*990C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala488Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-176952020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952020
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952020
    reference: chr 5
allele count: 14
allele frequency: 1.26207990768787e-4
allele num: 110928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1462G>A
  hgvsp: ENSP00000422131.1:p.Ala488Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2692G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1363G>A
  hgvsp: ENSP00000410098.2:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.469G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*513G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*989G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.340G>A
  hgvsp: ENSP00000332014.5:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.518G>A
  hgvsp: ENSP00000432463.1:p.Ala174Thr
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala488Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

5-176952023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952023
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952023
    reference: chr 5
allele count: 11
allele frequency: 9.888351521907194e-5
allele num: 111242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2689C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.337C>T
  hgvsp: ENSP00000332014.5:p.Arg113Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.515C>T
  hgvsp: ENSP00000432463.1:p.Arg173Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1459C>T
  hgvsp: ENSP00000422131.1:p.Arg487Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*986C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*510C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1360C>T
  hgvsp: ENSP00000410098.2:p.Arg454Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.466C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49725
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg487Cys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

5-176952032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952032
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952032
    reference: chr 5
allele count: 5
allele frequency: 4.466678577809541e-5
allele num: 111940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*977G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.328G>A
  hgvsp: ENSP00000332014.5:p.Asp110Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.506G>A
  hgvsp: ENSP00000432463.1:p.Asp170Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2680G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1351G>A
  hgvsp: ENSP00000410098.2:p.Asp451Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*501G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1450G>A
  hgvsp: ENSP00000422131.1:p.Asp484Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.457G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp484Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

5-176952036-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952036
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952036
    reference: chr 5
allele count: 1
allele frequency: 8.90694028787231e-6
allele num: 112272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.324C>G
  hgvsp: ENST00000329540.5:c.324C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2676C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1446C>G
  hgvsp: ENST00000514747.1:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*973C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.502C>G
  hgvsp: ENST00000524677.1:c.502C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*497C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.453C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1347C>G
  hgvsp: ENST00000443375.2:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val482Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

5-176952039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952039
    reference: chr 5
allele count: 1
allele frequency: 8.879417510211331e-6
allele num: 112620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.499T>C
  hgvsp: ENST00000524677.1:c.499T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1443T>C
  hgvsp: ENST00000514747.1:c.1443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*494T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2673T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*970T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1344T>C
  hgvsp: ENST00000443375.2:c.1344T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.450T>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.321T>C
  hgvsp: ENST00000329540.5:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr481Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

5-176952040-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952040
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952040
    reference: chr 5
allele count: 1
allele frequency: 8.871697510601678e-6
allele num: 112718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*969C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1343C>G
  hgvsp: ENSP00000410098.2:p.Thr448Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*493C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.449C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1442C>G
  hgvsp: ENSP00000422131.1:p.Thr481Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2672C>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.320C>G
  hgvsp: ENSP00000332014.5:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.498C>G
  hgvsp: ENSP00000432463.1:p.Thr167Ser
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr481Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

5-176952061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952061
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952061
    reference: chr 5
allele count: 8
allele frequency: 6.979584714709475e-5
allele num: 114620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.428G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*948G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1322G>A
  hgvsp: ENSP00000410098.2:p.Arg441His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2651G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1421G>A
  hgvsp: ENSP00000422131.1:p.Arg474His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.477G>A
  hgvsp: ENSP00000432463.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.299G>A
  hgvsp: ENSP00000332014.5:p.Arg100His
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.699G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*472G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg474His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-176952062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952062
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952062
    reference: chr 5
allele count: 5
allele frequency: 4.358209995990447e-5
allele num: 114726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.698C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.476C>T
  hgvsp: ENSP00000432463.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*471C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.427C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*947C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.298C>T
  hgvsp: ENSP00000332014.5:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1321C>T
  hgvsp: ENSP00000410098.2:p.Arg441Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1420C>T
  hgvsp: ENSP00000422131.1:p.Arg474Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2650C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg474Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-176952072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952072
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952072
    reference: chr 5
allele count: 52
allele frequency: 4.503880266075388e-4
allele num: 115456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1311C>T
  hgvsp: ENST00000443375.2:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.466C>T
  hgvsp: ENST00000524677.1:c.466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.688C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2640C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.288C>T
  hgvsp: ENST00000329540.5:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*937C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1410C>T
  hgvsp: ENST00000514747.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*461C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.417C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe470Phe
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-176952076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952076
    reference: chr 5
allele count: 1
allele frequency: 8.651566798747254e-6
allele num: 115586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.413G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.684G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1307G>C
  hgvsp: ENSP00000410098.2:p.Ser436Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.284G>C
  hgvsp: ENSP00000332014.5:p.Ser95Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*933G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.462G>C
  hgvsp: ENSP00000432463.1:p.Ser155Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1406G>C
  hgvsp: ENSP00000422131.1:p.Ser469Thr
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2636G>C
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*457G>C
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser469Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

5-176952083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952083
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952083
    reference: chr 5
allele count: 1
allele frequency: 8.644835575227359e-6
allele num: 115676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.677G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*450G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.455G>A
  hgvsp: ENSP00000432463.1:p.Val153Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.406G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1300G>A
  hgvsp: ENSP00000410098.2:p.Val434Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1399G>A
  hgvsp: ENSP00000422131.1:p.Val467Ile
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2629G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*926G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.277G>A
  hgvsp: ENSP00000332014.5:p.Val93Ile
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val467Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

5-176952085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952085
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952085
    reference: chr 5
allele count: 30
allele frequency: 2.594527277130107e-4
allele num: 115628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*924G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1397G>A
  hgvsp: ENSP00000422131.1:p.Arg466Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.453G>A
  hgvsp: ENSP00000432463.1:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*448G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.675G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2627G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.404G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.275G>A
  hgvsp: ENSP00000332014.5:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1298G>A
  hgvsp: ENSP00000410098.2:p.Arg433Gln
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg466Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

5-176952089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952089
    reference: chr 5
allele count: 20
allele frequency: 1.731571747675365e-4
allele num: 115502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.400G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1294G>A
  hgvsp: ENSP00000410098.2:p.Asp432Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*444G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.449G>A
  hgvsp: ENSP00000432463.1:p.Asp151Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.271G>A
  hgvsp: ENSP00000332014.5:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1393G>A
  hgvsp: ENSP00000422131.1:p.Asp465Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*920G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.671G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2623G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39547
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp465Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

5-176952090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952090
    reference: chr 5
allele count: 4
allele frequency: 3.464523281596452e-5
allele num: 115456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2622G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.270G>A
  hgvsp: ENST00000329540.5:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1293G>A
  hgvsp: ENST00000443375.2:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.670G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.448G>A
  hgvsp: ENST00000524677.1:c.448G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*919G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1392G>A
  hgvsp: ENST00000514747.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*443G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.399G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50850
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu464Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-176952093-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952093
    reference: chr 5
allele count: 1
allele frequency: 8.674531575294935e-6
allele num: 115280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*440A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.396A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*916A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1389A>T
  hgvsp: ENSP00000422131.1:p.Glu463Asp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.267A>T
  hgvsp: ENSP00000332014.5:p.Glu89Asp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.445A>T
  hgvsp: ENSP00000432463.1:p.Glu149Asp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.667A>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1290A>T
  hgvsp: ENSP00000410098.2:p.Glu430Asp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2619A>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu463Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-176952093-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952093
    reference: chr 5
allele count: 1
allele frequency: 8.674531575294935e-6
allele num: 115280
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1389A>G
  hgvsp: ENST00000514747.1:c.1389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.667A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2619A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1290A>G
  hgvsp: ENST00000443375.2:c.1290A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.267A>G
  hgvsp: ENST00000329540.5:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.445A>G
  hgvsp: ENST00000524677.1:c.445A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*440A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*916A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.396A>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu463Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-176952098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952098
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952098
    reference: chr 5
allele count: 1
allele frequency: 8.689154197730393e-6
allele num: 115086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*911C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.262C>T
  hgvsp: ENSP00000332014.5:p.Arg88Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1384C>T
  hgvsp: ENSP00000422131.1:p.Arg462Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1285C>T
  hgvsp: ENSP00000410098.2:p.Arg429Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2614C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*435C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.440C>T
  hgvsp: ENSP00000432463.1:p.Arg148Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.391C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.662C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg462Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

5-176952101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952101
    reference: chr 5
allele count: 21
allele frequency: 1.827421768944272e-4
allele num: 114916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1381G>A
  hgvsp: ENSP00000422131.1:p.Asp461Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.659G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1282G>A
  hgvsp: ENSP00000410098.2:p.Asp428Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2611G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*908G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.437G>A
  hgvsp: ENSP00000432463.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*432G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.259G>A
  hgvsp: ENSP00000332014.5:p.Asp87Asn
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.388G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp461Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-176952102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952102
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952102
    reference: chr 5
allele count: 2
allele frequency: 1.740431975216249e-5
allele num: 114914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.658C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2610C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*907C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.258C>T
  hgvsp: ENST00000329540.5:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.387C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1380C>T
  hgvsp: ENST00000514747.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*431C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1281C>T
  hgvsp: ENST00000443375.2:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.436C>T
  hgvsp: ENST00000524677.1:c.436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro460Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-176952108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952108
    reference: chr 5
allele count: 257
allele frequency: 2.242230714198468e-3
allele num: 114618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.252G>A
  hgvsp: ENST00000329540.5:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1275G>A
  hgvsp: ENST00000443375.2:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1374G>A
  hgvsp: ENST00000514747.1:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.381G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.430G>A
  hgvsp: ENST00000524677.1:c.430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.652G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2604G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*901G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*425G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 38292
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49379
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Glu458Glu
num of homozygotes: 4
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-176952116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952116
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952116
    reference: chr 5
allele count: 1
allele frequency: 8.764549151591641e-6
allele num: 114096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.644C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2596C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1267C>T
  hgvsp: ENSP00000410098.2:p.Leu423Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*893C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1366C>T
  hgvsp: ENSP00000422131.1:p.Leu456Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*417C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.422C>T
  hgvsp: ENSP00000432463.1:p.Leu142Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.244C>T
  hgvsp: ENSP00000332014.5:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.373C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu456Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-176952135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952135
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952135
    reference: chr 5
allele count: 1
allele frequency: 8.927774305865547e-6
allele num: 112010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2577A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.403A>G
  hgvsp: ENST00000524677.1:c.403A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.225A>G
  hgvsp: ENST00000329540.5:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1248A>G
  hgvsp: ENST00000443375.2:c.1248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*398A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.354A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1347A>G
  hgvsp: ENST00000514747.1:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*874A>G
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.625A>G
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro449Pro
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: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-176952142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952142
    reference: chr 5
allele count: 22
allele frequency: 1.981517842667483e-4
allele num: 111026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.618G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.347G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.396G>A
  hgvsp: ENSP00000432463.1:p.Arg133Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.218G>A
  hgvsp: ENSP00000332014.5:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1340G>A
  hgvsp: ENSP00000422131.1:p.Arg447Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*867G>A
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1241G>A
  hgvsp: ENSP00000410098.2:p.Arg414Gln
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2570G>A
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg447Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-176952143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952143
    reference: chr 5
allele count: 6
allele frequency: 5.412231643514342e-5
allele num: 110860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.346C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.617C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2569C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.217C>T
  hgvsp: ENSP00000332014.5:p.Arg73Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*866C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*390C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1339C>T
  hgvsp: ENSP00000422131.1:p.Arg447Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1240C>T
  hgvsp: ENSP00000410098.2:p.Arg414Trp
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.395C>T
  hgvsp: ENSP00000432463.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg447Trp
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-176952151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952151
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952151
    reference: chr 5
allele count: 15
allele frequency: 1.364579163785889e-4
allele num: 109924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*858C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.209C>T
  hgvsp: ENSP00000332014.5:p.Ser70Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1331C>T
  hgvsp: ENSP00000422131.1:p.Ser444Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*382C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.609C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.387C>T
  hgvsp: ENSP00000432463.1:p.Ser130Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1232C>T
  hgvsp: ENSP00000410098.2:p.Ser411Phe
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.338C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2561C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36493
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Ser444Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-176952157-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952157
    reference: chr 5
allele count: 1
allele frequency: 9.167415338919345e-6
allele num: 109082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000432463
  ensembl transcript: ENST00000524677
  gene symbol: FAM193B
  hgvsc: ENST00000524677.1:c.381G>T
  hgvsp: ENSP00000432463.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000422131
  ensembl transcript: ENST00000514747
  gene symbol: FAM193B
  hgvsc: ENST00000514747.1:c.1325G>T
  hgvsp: ENSP00000422131.1:p.Arg442Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2555G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1226G>T
  hgvsp: ENSP00000410098.2:p.Arg409Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425002
  ensembl transcript: ENST00000510479
  gene symbol: FAM193B
  hgvsc: ENST00000510479.1:c.*852G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.603G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000332014
  ensembl transcript: ENST00000329540
  gene symbol: FAM193B
  hgvsc: ENST00000329540.5:c.203G>T
  hgvsp: ENSP00000332014.5:p.Arg68Leu
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000505569
  gene symbol: FAM193B
  hgvsc: ENST00000505569.1:n.332G>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*376G>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46940
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg442Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-176952158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 176952158
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 176952158
    reference: chr 5
allele count: 4
allele frequency: 3.672689878066696e-5
allele num: 108912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000424961
  ensembl transcript: ENST00000506955
  gene symbol: FAM193B
  hgvsc: ENST00000506955.1:c.*2554C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000410098
  ensembl transcript: ENST00000443375
  gene symbol: FAM193B
  hgvsc: ENST00000443375.2:c.1225C>T
  hgvsp: ENSP00000410098.2:p.Arg409Cys
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146067
  ensembl transcript: ENST00000513502
  gene symbol: FAM193B
  hgvsc: ENST00000513502.1:n.602C>T
  variant of: http://identifiers.org/hgnc/25524
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146067
  ensembl protein: ENSP00000425310
  ensembl transcript: ENST00000510163
  gene symbol: FAM193B
  hgvsc: ENST00000510163.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/25524
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg442Cys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.104240282685512e-4
allele num: 9056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 9.47198e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
all individuals: 911
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4320
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18165
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.274534794799898e-4
allele num: 7846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.37978e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.446e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
all individuals: 5221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5016
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.448435689455388e-4
allele num: 6904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.076e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 8.73703e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 7.69e0

GenotypeQuality
all individuals: 3034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 10741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.083632799738647e-5
allele num: 48976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.207437816952427e-4
allele num: 8282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.475361463558572e-4
allele num: 6778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 8.43164e5

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 6.346e0

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 21647
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5093
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.046245140167792e-5
allele num: 48870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.41162e5

FS
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 6.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 5764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.254232961796988e-5
allele num: 47012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 7.88757e5

FS
type: SiteQuality
SIO_000300: 6.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
all individuals: 6063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.218573900696632e-5
allele num: 45074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.51344e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.375e1

FS
type: SiteQuality
SIO_000300: 4.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.379690949227373e-4
allele num: 7248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.996716510626969e-4
allele num: 45074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.177700348432056e-4
allele num: 4592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.51344e5

QD
type: SiteQuality
SIO_000300: 1.375e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 4.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.739130434782609e-4
allele num: 5750
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 7.29494e5

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.646192445291084e-5
allele num: 43046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.23728e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.863e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.346720214190094e-4
allele num: 5976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.665e1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 2.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 7.2237e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.626545217957059e-4
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.364289767353887e-5
allele num: 42296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 4.763e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.24238e5

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.364289767353887e-5
allele num: 42296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.816200508536142e-4
allele num: 5506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43274
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African
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allele count: 1
allele frequency: 1.628664495114007e-4
allele num: 6140
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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African
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allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.297477369847907e-5
allele num: 43526
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6302
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European (Finnish)
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allele num: 4394
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South Asian
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ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.595405232929164e-4
allele num: 6268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.694e-1

DP
type: SiteQuality
SIO_000300: 7.64578e5

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 7.65e0

GenotypeQuality
all individuals: 5653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 5.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.271178741766977e-5
allele num: 44030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.364e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.652e1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 7.6914e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.902e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 844
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10715
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.73324e5

MQRankSum
type: SiteQuality
SIO_000300: -2.017e0

QD
type: SiteQuality
SIO_000300: 5.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 694
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.241549358916883e-5
allele num: 44612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.022e1

FS
type: SiteQuality
SIO_000300: 2.522e0

VQSLOD
type: SiteQuality
SIO_000300: -2.98e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 7.80704e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 18425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 28

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 5.81467790837729e-4
allele num: 48154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

DP
type: SiteQuality
SIO_000300: 8.75458e5

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 11784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 704
bin: 5.25e1
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GenotypeQuality
all individuals: 2322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 2392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30974
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53748
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.451800232288037e-4
allele num: 6888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 2.032e1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 1.036625e6

VQSLOD
type: SiteQuality
SIO_000300: -1.667e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 5.367e0

GenotypeQuality
all individuals: 807
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.845290817832891e-5
allele num: 54192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.13e0

DP
type: SiteQuality
SIO_000300: 1.047657e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5692
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 331
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.397200706617747e-5
allele num: 58872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.178228e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 604
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 919
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 436
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.75e1
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GenotypeQuality
all individuals: 629
bin: 3.75e1
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GenotypeQuality
all individuals: 690
bin: 5.25e1
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 1644
bin: 9.75e1
variant carriers: 1323

GenotypeQuality
all individuals: 4951
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
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GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 289
allele frequency: 4.55979804354686e-2
allele num: 6338
num of homozygotes: 10

African
type: Population
allele count: 24
allele frequency: 2.775208140610546e-3
allele num: 8648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 990
allele frequency: 1.66135257593556e-2
allele num: 59590
num of homozygotes: 8

South Asian
type: Population
allele count: 4
allele frequency: 4.822763443453099e-4
allele num: 8294
num of homozygotes: 0

Latino
type: Population
allele count: 36
allele frequency: 3.498542274052478e-3
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 2.066115702479339e-2
allele num: 726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.209432e6

FS
type: SiteQuality
SIO_000300: 6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeQuality
all individuals: 497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43360
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.360160490913382e-4
allele num: 8474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.224531e6

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
all individuals: 3628
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61838
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.261454e6

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.702e0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 1.377e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61363196282192e-5
allele num: 61972
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

QD
type: SiteQuality
SIO_000300: 1.383e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.26407e6

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 2.899e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 7.5e0
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GenotypeQuality
all individuals: 217
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 351
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.665571235260003e-5
allele num: 62076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.266216e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 2.641e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 1

GenotypeQuality
all individuals: 45902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.023641941887746e-5
allele num: 11082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.641e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.87e-1

DP
type: SiteQuality
SIO_000300: 1.266216e6

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2039
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 345
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.211716341212744e-5
allele num: 62272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

MQRankSum
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.2361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 1.271383e6

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 344
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variant carriers: 1

GenotypeQuality
all individuals: 3030
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.273274e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 151
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GenotypeQuality
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GenotypeQuality
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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: 3197
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GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

QD
type: SiteQuality
SIO_000300: 7.74e0

DP
type: SiteQuality
SIO_000300: 1.293942e6

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 3708
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GenotypeQuality
all individuals: 981
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GenotypeQuality
all individuals: 48813
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GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 102
bin: 4.75e1
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GenotypeQuality
all individuals: 103
bin: 5.75e1
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GenotypeQuality
all individuals: 348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.573762236001385e-5
allele num: 63542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQRankSum
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SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
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SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.104e0

DP
type: SiteQuality
SIO_000300: 1.309522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-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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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63638
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.107925801011804e-4
allele num: 9488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 4.426e0

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 1.312934e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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variant carriers: 24

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.607956328041664e-4
allele num: 63748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.317256e6

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63954
num of homozygotes: 0

South Asian
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allele frequency: 2.202158114952654e-4
allele num: 9082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9590
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: 11466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.455e0

DP
type: SiteQuality
SIO_000300: 1.326605e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563623854645526e-5
allele num: 63954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.455e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.326605e6

QD
type: SiteQuality
SIO_000300: 1.469e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.563086157308991e-5
allele num: 63976
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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QD
type: SiteQuality
SIO_000300: 1.055e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.328162e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
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: 63990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
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African
type: Population
allele count: 1
allele frequency: 1.042100875364735e-4
allele num: 9596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 192

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.484927687750479e-4
allele num: 11478
num of homozygotes: 0

South Asian
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allele count: 0
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African
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allele count: 180
allele frequency: 1.875390706397166e-2
allele num: 9598
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.718803712616019e-4
allele num: 63998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
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allele frequency: 1.288659793814433e-3
allele num: 776
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.765e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.343131e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.561816705191479e-5
allele num: 64028
num of homozygotes: 0

South Asian
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.334667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.223e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 4.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-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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bin: 9.75e1
variant carriers: 2

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

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

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

East Asian
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allele count: 2
allele frequency: 2.347417840375587e-4
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64048
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 1.34e0

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 1.957e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.335946e6

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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: 786
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.559965056782728e-5
allele num: 64104
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.338599e6

FS
type: SiteQuality
SIO_000300: 1.037e0

BaseQRankSum
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SIO_000300: -2.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-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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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.040799333888426e-4
allele num: 9608
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
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allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64184
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -5.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 9.571999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.482e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.341844e6

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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bin: 9.75e1
variant carriers: 14

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.45681581685744e-3
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.205e0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.343809e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.711209981021126e-4
allele num: 64282
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 1.34661e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.815100154083205e-4
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
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: 64456
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.35228e6

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

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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bin: 1.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64540
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
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MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.228e1

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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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64604
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 820
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South Asian
type: Population
allele count: 1
allele frequency: 9.199632014719411e-5
allele num: 10870
num of homozygotes: 0

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

East Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

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

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

African
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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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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547316952404531e-5
allele num: 64628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.235e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 6
allele frequency: 6.206040546131568e-4
allele num: 9668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12368
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53817756721836e-5
allele num: 65012
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 1.373885e6

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.341785342132685e-4
allele num: 11516
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: 8598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.374077e6

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51410
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variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 4.512322110378341e-3
allele num: 11524
num of homozygotes: 1

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: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.383e0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.382767e6

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 164
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
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: 65260
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.667535654040791e-5
allele num: 13042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 1.38023e6

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 637
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GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.614986293024673e-5
allele num: 13132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.184e0

QD
type: SiteQuality
SIO_000300: 9.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.380012e6

GenotypeQuality
all individuals: 383
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
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GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 633
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GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 51141
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 2875
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.984918615700579e-4
allele num: 65246
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.065262288310616e-4
allele num: 9684
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.628928898382667e-5
allele num: 13108
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.38092e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

GenotypeQuality
all individuals: 374
bin: 9.75e1
variant carriers: 20

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 227
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GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
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GenotypeQuality
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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: 166
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GenotypeQuality
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GenotypeQuality
all individuals: 50920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.913752913752914e-4
allele num: 65208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 1.377049e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
all individuals: 175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
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variant carriers: 4

GenotypeQuality
all individuals: 73
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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: 40
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3400
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GenotypeQuality
all individuals: 166
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GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65184
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: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.071253071253071e-4
allele num: 13024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.295e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.375548e6

GenotypeQuality
all individuals: 3292
bin: 2.25e1
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GenotypeQuality
all individuals: 3385
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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bin: 9.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
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: 12912
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -9.613e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 6.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.372583e6

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
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: 12912
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

InbreedingCoeff
type: SiteQuality
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QD
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.613e-1

BaseQRankSum
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SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.372583e6

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

Latino
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allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12810
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.225e0

DP
type: SiteQuality
SIO_000300: 1.370337e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.998e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

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

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

Other
type: Population
allele count: 2
allele frequency: 2.347417840375587e-3
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.244038979888036e-3
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.605976372480889e-4
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.154793045083859e-5
allele num: 64990
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.36854e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.073828287017835e-4
allele num: 9644
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: 64994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.313e1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 1.368115e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64858
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 253
allele frequency: 2.01176844783715e-2
allele num: 12576
num of homozygotes: 4

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

African
type: Population
allele count: 2
allele frequency: 2.076843198338525e-4
allele num: 9630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.36766e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.546216408448527e-5
allele num: 64674
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12278
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.355538e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.564357674738752e-5
allele num: 63924
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Other
type: Population
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East Asian
type: Population
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allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.335718e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.058201058201058e-4
allele num: 9450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.146831141040972e-4
allele num: 63556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.329425e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47865
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.724855891895298e-5
allele num: 63494
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.830188679245283e-4
allele num: 10600
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 4.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.327325e6

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47478
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.472320376914017e-3
allele num: 10188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.3172e6

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591849729385546e-5
allele num: 62820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.308703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1