18-21047388-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047388
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047389
    reference: chr 18
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.246dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.864dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.716dupT
  hgvsp: ENSP00000462548.1:p.Leu239PhefsTer5
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.171dupT
  hgvsp: ENSP00000463791.1:p.Leu58PhefsTer5
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1151dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.668dupT
  hgvsp: ENSP00000463660.1:p.Leu223PhefsTer5
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.716dupT
  hgvsp: ENSP00000341874.3:p.Leu239PhefsTer5
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu239PhefsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

18-21047388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047388
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047388
    reference: chr 18
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.861G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.665G>A
  hgvsp: ENSP00000463660.1:p.Arg222His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.713G>A
  hgvsp: ENSP00000462548.1:p.Arg238His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.168G>A
  hgvsp: ENSP00000463791.1:p.Arg57His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.243G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.713G>A
  hgvsp: ENSP00000341874.3:p.Arg238His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1148G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg238His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-21047396-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047396
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047395
    reference: chr 18
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.870delT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.177delT
  hgvsp: ENSP00000463791.1:p.Met60SerfsTer?
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1157delT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.252delT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.722delT
  hgvsp: ENSP00000341874.3:p.Met241SerfsTer79
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.722delT
  hgvsp: ENSP00000462548.1:p.Met241SerfsTer79
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.674delT
  hgvsp: ENSP00000463660.1:p.Met225SerfsTer79
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met241SerfsTer79
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: AT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-21047397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047397
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047397
    reference: chr 18
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1157T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.674T>C
  hgvsp: ENSP00000463660.1:p.Met225Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.722T>C
  hgvsp: ENSP00000462548.1:p.Met241Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.252T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.177T>C
  hgvsp: ENSP00000463791.1:p.Met60Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.870T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.722T>C
  hgvsp: ENSP00000341874.3:p.Met241Thr
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8369
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met241Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-21047412-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047412
    reference: chr 18
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.689A>C
  hgvsp: ENSP00000463660.1:p.Asn230Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1172A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.737A>C
  hgvsp: ENSP00000462548.1:p.Asn246Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.267A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.885A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.737A>C
  hgvsp: ENSP00000341874.3:p.Asn246Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.192A>C
  hgvsp: ENSP00000463791.1:p.Asn65Thr
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn246Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

18-21047412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047412
    reference: chr 18
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.885A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.737A>G
  hgvsp: ENSP00000341874.3:p.Asn246Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.689A>G
  hgvsp: ENSP00000463660.1:p.Asn230Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.737A>G
  hgvsp: ENSP00000462548.1:p.Asn246Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.267A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.192A>G
  hgvsp: ENSP00000463791.1:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1172A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn246Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

18-21047413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047413
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047413
    reference: chr 18
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.268C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.690C>T
  hgvsp: ENST00000581585.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.738C>T
  hgvsp: ENST00000339486.3:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1173C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.193C>T
  hgvsp: ENST00000584130.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.738C>T
  hgvsp: ENST00000577501.1:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.886C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn246Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21047427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047427
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047427
    reference: chr 18
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.207A>G
  hgvsp: ENSP00000463791.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1187A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.752A>G
  hgvsp: ENSP00000341874.3:p.Glu251Gly
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.752A>G
  hgvsp: ENSP00000462548.1:p.Glu251Gly
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.704A>G
  hgvsp: ENSP00000463660.1:p.Glu235Gly
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.282A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.900A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu251Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

18-21047453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047453
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047453
    reference: chr 18
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1213G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.730G>A
  hgvsp: ENSP00000463660.1:p.Gly244Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.308G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.926G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.233G>A
  hgvsp: ENSP00000463791.1:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.778G>A
  hgvsp: ENSP00000341874.3:p.Gly260Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.778G>A
  hgvsp: ENSP00000462548.1:p.Gly260Arg
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly260Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

18-21047471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047471
    reference: chr 18
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1231T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.796T>C
  hgvsp: ENSP00000341874.3:p.Phe266Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.796T>C
  hgvsp: ENSP00000462548.1:p.Phe266Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.748T>C
  hgvsp: ENSP00000463660.1:p.Phe250Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.944T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.251T>C
  hgvsp: ENSP00000463791.1:p.Phe85Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.326T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe266Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-21047472-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047472
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047472
    reference: chr 18
allele count: 3
allele frequency: 2.473247704001715e-5
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.945T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.252T>C
  hgvsp: ENSP00000463791.1:p.Phe85Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.749T>C
  hgvsp: ENSP00000463660.1:p.Phe250Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.797T>C
  hgvsp: ENSP00000462548.1:p.Phe266Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1232T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.327T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.797T>C
  hgvsp: ENSP00000341874.3:p.Phe266Ser
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe266Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

18-21047480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047480
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047480
    reference: chr 18
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.805T>C
  hgvsp: ENSP00000462548.1:p.Tyr269His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.335T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.260T>C
  hgvsp: ENSP00000463791.1:p.Tyr88His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.953T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.805T>C
  hgvsp: ENSP00000341874.3:p.Tyr269His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1240T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.757T>C
  hgvsp: ENSP00000463660.1:p.Tyr253His
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr269His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-21047481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047481
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047481
    reference: chr 18
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.758A>G
  hgvsp: ENSP00000463660.1:p.Tyr253Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.806A>G
  hgvsp: ENSP00000341874.3:p.Tyr269Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.806A>G
  hgvsp: ENSP00000462548.1:p.Tyr269Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1241A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.261A>G
  hgvsp: ENSP00000463791.1:p.Tyr88Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.336A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.954A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr269Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21047488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047488
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047488
    reference: chr 18
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.268G>A
  hgvsp: ENST00000584130.1:c.268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.961G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1248G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.813G>A
  hgvsp: ENST00000577501.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.765G>A
  hgvsp: ENST00000581585.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.343G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.813G>A
  hgvsp: ENST00000339486.3:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
hgvs: c.813G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-21047508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047508
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047508
    reference: chr 18
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+18G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+18G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1268G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+18G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.363G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+18G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+18G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28499
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

18-21047512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047512
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047512
    reference: chr 18
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+22C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.367C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+22C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1272C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+22C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+22C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+22C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

18-21047514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047514
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047514
    reference: chr 18
allele count: 5
allele frequency: 4.149102134298138e-5
allele num: 120508
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+24A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+24A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+24A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+24A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+24A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.369A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1274A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

18-21047520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047520
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047520
    reference: chr 18
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+30T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+30T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.375T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1280T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+30T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+30T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+30T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

18-21047526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047526
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047526
    reference: chr 18
allele count: 24
allele frequency: 1.996638991031763e-4
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+36C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.381C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+36C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+36C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+36C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+36C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1286C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17047
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-21047529-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047529
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047529
    reference: chr 18
allele count: 4
allele frequency: 3.329227286346839e-5
allele num: 120148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+39A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+39A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+39A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+39A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+39A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  hgvsc: ENST00000584992.1:n.384A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1289A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-21047538-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21047538
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21047537
    reference: chr 18
allele count: 2
allele frequency: 1.67495770731789e-5
allele num: 119406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.815+52delC
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.815+52delC
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.108+1302delC
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000584992
  gene symbol: RIOK3
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.963+52delC
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.767+52delC
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.270+52delC
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7876
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: TC
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

18-21053348-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053348
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053348
    reference: chr 18
allele count: 25
allele frequency: 3.031111326656805e-4
allele num: 82478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.768-45T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.964-45T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.271-45T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.816-45T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.109-45T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.816-45T>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-21053357-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053357
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053357
    reference: chr 18
allele count: 2
allele frequency: 2.378460660260679e-5
allele num: 84088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.768-36A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.816-36A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.109-36A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.271-36A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.816-36A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.964-36A>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

18-21053373-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053373
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053374
    reference: chr 18
allele count: 4
allele frequency: 4.558404558404558e-5
allele num: 87750
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.271-12dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.816-12dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.768-12dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.109-12dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.964-12dupT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.816-12dupT
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21186
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14770
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-21053374-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053374
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053374
    reference: chr 18
allele count: 1
allele frequency: 1.128362520310525e-5
allele num: 88624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.964-19T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.109-19T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.271-19T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.768-19T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.816-19T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.816-19T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22376
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

18-21053378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053378
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053378
    reference: chr 18
allele count: 1
allele frequency: 1.07693633152408e-5
allele num: 92856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.768-15T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.109-15T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.271-15T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.964-15T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.816-15T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.816-15T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

18-21053395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053395
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053395
    reference: chr 18
allele count: 2
allele frequency: 1.910840196434372e-5
allele num: 104666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.966T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.273T>C
  hgvsp: ENSP00000463791.1:p.Met92Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.818T>C
  hgvsp: ENSP00000462548.1:p.Met273Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.818T>C
  hgvsp: ENSP00000341874.3:p.Met273Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.111T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.770T>C
  hgvsp: ENSP00000463660.1:p.Met257Thr
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met273Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

18-21053412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053412
    reference: chr 18
allele count: 1
allele frequency: 8.980368913554968e-6
allele num: 111354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.835G>A
  hgvsp: ENSP00000341874.3:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.787G>A
  hgvsp: ENSP00000463660.1:p.Asp263Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.290G>A
  hgvsp: ENSP00000463791.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.835G>A
  hgvsp: ENSP00000462548.1:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.983G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.128G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp279Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

18-21053414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053414
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053414
    reference: chr 18
allele count: 4
allele frequency: 3.579162118148141e-5
allele num: 111758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.292T>C
  hgvsp: ENST00000584130.1:c.292T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.837T>C
  hgvsp: ENST00000577501.1:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.837T>C
  hgvsp: ENST00000339486.3:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.985T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.789T>C
  hgvsp: ENST00000581585.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.130T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38276
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp279Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

18-21053416-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053416
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053416
    reference: chr 18
allele count: 1
allele frequency: 8.915516565029779e-6
allele num: 112164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.791G>T
  hgvsp: ENSP00000463660.1:p.Ser264Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.839G>T
  hgvsp: ENSP00000462548.1:p.Ser280Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.294G>T
  hgvsp: ENSP00000463791.1:p.Ser99Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.987G>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.132G>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.839G>T
  hgvsp: ENSP00000341874.3:p.Ser280Ile
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser280Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

18-21053418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053418
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053418
    reference: chr 18
allele count: 1
allele frequency: 8.870123649523674e-6
allele num: 112738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.841A>G
  hgvsp: ENSP00000462548.1:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.841A>G
  hgvsp: ENSP00000341874.3:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.296A>G
  hgvsp: ENSP00000463791.1:p.Lys100Glu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.989A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.793A>G
  hgvsp: ENSP00000463660.1:p.Lys265Glu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.134A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys281Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

18-21053436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053436
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053436
    reference: chr 18
allele count: 1
allele frequency: 8.642146017699115e-6
allele num: 115712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.859T>C
  hgvsp: ENSP00000462548.1:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.314T>C
  hgvsp: ENSP00000463791.1:p.Cys106Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1007T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.859T>C
  hgvsp: ENSP00000341874.3:p.Cys287Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.152T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.811T>C
  hgvsp: ENSP00000463660.1:p.Cys271Arg
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys287Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-21053444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053444
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053444
    reference: chr 18
allele count: 2
allele frequency: 1.716296232729769e-5
allele num: 116530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.819C>T
  hgvsp: ENST00000581585.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.160C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1015C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.867C>T
  hgvsp: ENST00000577501.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.867C>T
  hgvsp: ENST00000339486.3:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.322C>T
  hgvsp: ENST00000584130.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile289Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

18-21053457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053457
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053457
    reference: chr 18
allele count: 1
allele frequency: 8.523114687031229e-6
allele num: 117328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1028A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+10A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.880A>G
  hgvsp: ENSP00000341874.3:p.Thr294Ala
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+10A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.832A>G
  hgvsp: ENSP00000463660.1:p.Thr278Ala
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.880A>G
  hgvsp: ENSP00000462548.1:p.Thr294Ala
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr294Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

18-21053467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053467
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053467
    reference: chr 18
allele count: 2
allele frequency: 1.699004383431309e-5
allele num: 117716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+20A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.842A>G
  hgvsp: ENSP00000463660.1:p.Asn281Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1038A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.890A>G
  hgvsp: ENSP00000462548.1:p.Asn297Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.890A>G
  hgvsp: ENSP00000341874.3:p.Asn297Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+20A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn297Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-21053481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053481
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053481
    reference: chr 18
allele count: 5
allele frequency: 4.228758943825166e-5
allele num: 118238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.856C>T
  hgvsp: ENSP00000463660.1:p.Arg286Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.904C>T
  hgvsp: ENSP00000462548.1:p.Arg302Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+34C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+34C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1052C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.904C>T
  hgvsp: ENSP00000341874.3:p.Arg302Cys
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg302Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

18-21053482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053482
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053482
    reference: chr 18
allele count: 1
allele frequency: 8.447087444249223e-6
allele num: 118384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.905G>A
  hgvsp: ENSP00000462548.1:p.Arg302His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.857G>A
  hgvsp: ENSP00000463660.1:p.Arg286His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.905G>A
  hgvsp: ENSP00000341874.3:p.Arg302His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+35G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1053G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+35G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg302His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-21053486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053486
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053486
    reference: chr 18
allele count: 1
allele frequency: 8.425735566714975e-6
allele num: 118684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1057C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.909C>T
  hgvsp: ENST00000339486.3:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.909C>T
  hgvsp: ENST00000577501.1:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.861C>T
  hgvsp: ENST00000581585.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+39C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+39C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37965
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp303Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

18-21053492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053492
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053492
    reference: chr 18
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+45T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+45T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1063T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.915T>C
  hgvsp: ENST00000339486.3:c.915T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.867T>C
  hgvsp: ENST00000581585.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.915T>C
  hgvsp: ENST00000577501.1:c.915T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr305Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

18-21053495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053495
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053495
    reference: chr 18
allele count: 1
allele frequency: 8.403361344537815e-6
allele num: 119000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1066T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.918T>C
  hgvsp: ENST00000577501.1:c.918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+48T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.870T>C
  hgvsp: ENST00000581585.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+48T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.918T>C
  hgvsp: ENST00000339486.3:c.918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile306Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

18-21053517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053517
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053517
    reference: chr 18
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.892G>A
  hgvsp: ENSP00000463660.1:p.Asp298Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.940G>A
  hgvsp: ENSP00000341874.3:p.Asp314Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.940G>A
  hgvsp: ENSP00000462548.1:p.Asp314Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+70G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+70G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1088G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp314Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-21053520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053520
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053520
    reference: chr 18
allele count: 3
allele frequency: 2.509326329524733e-5
allele num: 119554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.943C>T
  hgvsp: ENSP00000462548.1:p.Arg315Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+73C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1091C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.895C>T
  hgvsp: ENSP00000463660.1:p.Arg299Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+73C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.943C>T
  hgvsp: ENSP00000341874.3:p.Arg315Cys
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38968
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg315Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-21053521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053521
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053521
    reference: chr 18
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.944G>A
  hgvsp: ENSP00000341874.3:p.Arg315His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+74G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1092G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.896G>A
  hgvsp: ENSP00000463660.1:p.Arg299His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+74G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.944G>A
  hgvsp: ENSP00000462548.1:p.Arg315His
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg315His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-21053542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053542
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053542
    reference: chr 18
allele count: 5
allele frequency: 4.188516762444083e-5
allele num: 119374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1113G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.965G>A
  hgvsp: ENSP00000462548.1:p.Arg322His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+95G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.917G>A
  hgvsp: ENSP00000463660.1:p.Arg306His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+95G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.965G>A
  hgvsp: ENSP00000341874.3:p.Arg322His
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg322His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

18-21053553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053553
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053553
    reference: chr 18
allele count: 2
allele frequency: 1.683785149014986e-5
allele num: 118780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1124C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.976C>T
  hgvsp: ENSP00000462548.1:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+106C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+106C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.928C>T
  hgvsp: ENSP00000463660.1:p.Arg310Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.976C>T
  hgvsp: ENSP00000341874.3:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg326Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

18-21053554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053554
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053554
    reference: chr 18
allele count: 1
allele frequency: 8.423464402439436e-6
allele num: 118716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.977G>A
  hgvsp: ENSP00000462548.1:p.Arg326His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+107G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.929G>A
  hgvsp: ENSP00000463660.1:p.Arg310His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1125G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.977G>A
  hgvsp: ENSP00000341874.3:p.Arg326His
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+107G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg326His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

18-21053556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053556
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053556
    reference: chr 18
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.931A>G
  hgvsp: ENSP00000463660.1:p.Met311Val
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+109A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1127A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.979A>G
  hgvsp: ENSP00000462548.1:p.Met327Val
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.979A>G
  hgvsp: ENSP00000341874.3:p.Met327Val
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+109A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met327Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

18-21053567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053567
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053567
    reference: chr 18
allele count: 8
allele frequency: 6.781500067815e-5
allele num: 117968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.990A>G
  hgvsp: ENST00000339486.3:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.990A>G
  hgvsp: ENST00000577501.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.942A>G
  hgvsp: ENST00000581585.1:c.942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1138A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+120A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+120A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37426
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu330Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

18-21053576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053576
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053576
    reference: chr 18
allele count: 1
allele frequency: 8.626639061421671e-6
allele num: 115920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1147G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+129G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.999G>A
  hgvsp: ENSP00000462548.1:p.Met333Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.951G>A
  hgvsp: ENSP00000463660.1:p.Met317Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+129G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.999G>A
  hgvsp: ENSP00000341874.3:p.Met333Ile
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met333Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

18-21053585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053585
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053585
    reference: chr 18
allele count: 2
allele frequency: 1.746175874834113e-5
allele num: 114536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1008C>T
  hgvsp: ENST00000577501.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+138C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1156C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.960C>T
  hgvsp: ENST00000581585.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1008C>T
  hgvsp: ENST00000339486.3:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+138C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu336Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

18-21053586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053586
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053586
    reference: chr 18
allele count: 6
allele frequency: 5.262234695667427e-5
allele num: 114020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1157G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.961G>A
  hgvsp: ENSP00000463660.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+139G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1009G>A
  hgvsp: ENSP00000341874.3:p.Ala337Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1009G>A
  hgvsp: ENSP00000462548.1:p.Ala337Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+139G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala337Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-21053588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053588
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053588
    reference: chr 18
allele count: 1
allele frequency: 8.811193740527967e-6
allele num: 113492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1159A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1011A>G
  hgvsp: ENST00000577501.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1011A>G
  hgvsp: ENST00000339486.3:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.963A>G
  hgvsp: ENST00000581585.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+141A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+141A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1011A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

18-21053593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053593
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053593
    reference: chr 18
allele count: 1
allele frequency: 8.865562608603142e-6
allele num: 112796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+3A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+3A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+146A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+146A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+3A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+3A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1013+3A>G
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

18-21053613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053613
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053613
    reference: chr 18
allele count: 2
allele frequency: 1.885974011278125e-5
allele num: 106046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+23C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+23C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+166C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+23C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+23C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+166C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

18-21053614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053614
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053614
    reference: chr 18
allele count: 2
allele frequency: 1.922485389111043e-5
allele num: 104032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+167G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+24G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+24G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+24G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+24G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+167G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21169
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17148
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21053619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053619
    reference: chr 18
allele count: 8
allele frequency: 7.717687009203342e-5
allele num: 103658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+29C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+29C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+29C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+172C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+29C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+172C>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

18-21053621-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053621
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053620
    reference: chr 18
allele count: 1
allele frequency: 9.69142502713599e-6
allele num: 103184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+34delG
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+34delG
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+177delG
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+34delG
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+177delG
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+34delG
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

18-21053623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053623
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053623
    reference: chr 18
allele count: 1
allele frequency: 9.781864423359092e-6
allele num: 102230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+33G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+176G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+33G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+33G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+176G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+33G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

18-21053629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053629
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053629
    reference: chr 18
allele count: 2
allele frequency: 2.020120399175791e-5
allele num: 99004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+182T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+39T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+182T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+39T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+39T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+39T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

18-21053637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053637
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053637
    reference: chr 18
allele count: 1
allele frequency: 1.1064884482606e-5
allele num: 90376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+190T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+47T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+47T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+190T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+47T>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+47T>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-21053640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053640
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21053640
    reference: chr 18
allele count: 1
allele frequency: 1.143876827343232e-5
allele num: 87422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1013+50A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.325+193A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.163+193A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1161+50A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1013+50A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.965+50A>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

18-21054882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054882
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054882
    reference: chr 18
allele count: 1
allele frequency: 8.425735566714975e-6
allele num: 118684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1162-30G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.966-30G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.164-30G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.326-30G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1014-30G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1014-30G>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

18-21054885-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054885
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054885
    reference: chr 18
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1162-27T>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.326-27T>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1014-27T>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.164-27T>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.966-27T>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1014-27T>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

18-21054896-ATTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054896
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054892
    reference: chr 18
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.164-12_164-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1014-12_1014-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.326-12_326-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1162-12_1162-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.966-12_966-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1014-12_1014-9delCTTT
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: ATTTC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

18-21054925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054925
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054925
    reference: chr 18
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1027G>A
  hgvsp: ENSP00000341874.3:p.Gly343Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.979G>A
  hgvsp: ENSP00000463660.1:p.Gly327Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1027G>A
  hgvsp: ENSP00000462548.1:p.Gly343Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.339G>A
  hgvsp: ENSP00000463791.1:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.177G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1175G>A
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp114Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

18-21054930-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054930
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054930
    reference: chr 18
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1032T>A
  hgvsp: ENST00000577501.1:c.1032T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.182T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.984T>A
  hgvsp: ENST00000581585.1:c.984T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1032T>A
  hgvsp: ENST00000339486.3:c.1032T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1180T>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.344T>A
  hgvsp: ENSP00000463791.1:p.Ser116Thr
  variant of: http://identifiers.org/hgnc/11451
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser116Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

18-21054931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054931
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054931
    reference: chr 18
allele count: 3
allele frequency: 2.477823479855295e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1181C>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1033C>G
  hgvsp: ENSP00000462548.1:p.Pro345Ala
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1033C>G
  hgvsp: ENSP00000341874.3:p.Pro345Ala
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.345C>G
  hgvsp: ENSP00000463791.1:p.Ser116Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.985C>G
  hgvsp: ENSP00000463660.1:p.Pro329Ala
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.183C>G
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro345Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/18-21054969-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054969
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054969
    reference: chr 18
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1023A>C
  hgvsp: ENSP00000463660.1:p.Leu341Phe
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1071A>C
  hgvsp: ENSP00000462548.1:p.Leu357Phe
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.221A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.383A>C
  hgvsp: ENSP00000463791.1:p.Ser129Arg
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1071A>C
  hgvsp: ENSP00000341874.3:p.Leu357Phe
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1219A>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu357Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-21054970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054970
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054970
    reference: chr 18
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1024G>A
  hgvsp: ENSP00000463660.1:p.Val342Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.384G>A
  hgvsp: ENSP00000463791.1:p.Ser129Asn
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1072G>A
  hgvsp: ENSP00000341874.3:p.Val358Ile
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1220G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.222G>A
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1072G>A
  hgvsp: ENSP00000462548.1:p.Val358Ile
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10009
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val358Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

18-21054970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054970
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054970
    reference: chr 18
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.384G>C
  hgvsp: ENSP00000463791.1:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.222G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1220G>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1024G>C
  hgvsp: ENSP00000463660.1:p.Val342Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1072G>C
  hgvsp: ENSP00000462548.1:p.Val358Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1072G>C
  hgvsp: ENSP00000341874.3:p.Val358Leu
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val358Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/18-21054973-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054973
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054973
    reference: chr 18
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.225A>C
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1075A>C
  hgvsp: ENSP00000462548.1:p.Met359Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1075A>C
  hgvsp: ENSP00000341874.3:p.Met359Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.387A>C
  hgvsp: ENSP00000463791.1:p.Tyr130Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1027A>C
  hgvsp: ENSP00000463660.1:p.Met343Leu
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1223A>C
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met359Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

18-21054982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21054982
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21054982
    reference: chr 18
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1232A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.234A>G
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1084A>G
  hgvsp: ENSP00000341874.3:p.Ile362Val
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1084A>G
  hgvsp: ENSP00000462548.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463791
  ensembl transcript: ENST00000584130
  gene symbol: RIOK3
  hgvsc: ENST00000584130.1:c.396A>G
  hgvsp: ENSP00000463791.1:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1036A>G
  hgvsp: ENSP00000463660.1:p.Ile346Val
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile362Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

18-21055000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21055000
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21055000
    reference: chr 18
allele count: 6
allele frequency: 4.952374663651221e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000341874
  ensembl transcript: ENST00000339486
  gene symbol: RIOK3
  hgvsc: ENST00000339486.3:c.1102C>T
  hgvsp: ENSP00000341874.3:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581302
  gene symbol: RIOK3
  hgvsc: ENST00000581302.1:n.1250C>T
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000463660
  ensembl transcript: ENST00000581585
  gene symbol: RIOK3
  hgvsc: ENST00000581585.1:c.1054C>T
  hgvsp: ENSP00000463660.1:p.Pro352Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101782
  ensembl protein: ENSP00000462548
  ensembl transcript: ENST00000577501
  gene symbol: RIOK3
  hgvsc: ENST00000577501.1:c.1102C>T
  hgvsp: ENSP00000462548.1:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/11451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101782
  ensembl transcript: ENST00000581339
  gene symbol: RIOK3
  hgvsc: ENST00000581339.1:n.252C>T
  variant of: http://identifiers.org/hgnc/11451
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro368Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 31901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7925
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2866
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.936785e6

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
all individuals: 1188
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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African
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10400
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Latino
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European (Finnish)
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allele num: 6610
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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QD
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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African
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South Asian
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European (Finnish)
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DP
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: 6.1e-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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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66698
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 1.936069e6

QD
type: SiteQuality
SIO_000300: 1.519e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.605e1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

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

DP
type: SiteQuality
SIO_000300: 1.933879e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-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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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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South Asian
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allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.944e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

QD
type: SiteQuality
SIO_000300: 1.505e1

DP
type: SiteQuality
SIO_000300: 1.928415e6

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
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: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.887319e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.165e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

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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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.134969325153375e-5
allele num: 16300
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 4.839e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.549904871198623e-5
allele num: 66226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.362e0

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

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

South Asian
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num of homozygotes: 0

Other
type: Population
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European (Non-Finnish)
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allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
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MQ
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.059578590457738e-4
allele num: 66064
num of homozygotes: 0

Other
type: Population
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Latino
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allele frequency: 1.394214011850819e-3
allele num: 11476
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European (Finnish)
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allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

African
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Latino
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allele frequency: 8.718395815170009e-5
allele num: 11470
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European (Non-Finnish)
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allele frequency: 4.542838971501257e-5
allele num: 66038
num of homozygotes: 0

East Asian
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South Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
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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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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.339728591483388e-4
allele num: 8548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 7.233e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
type: SiteQuality
SIO_000300: 1.73951e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 24

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 3.356956359567325e-3
allele num: 5362
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.37520055008022e-4
allele num: 43630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.488095238095238e-3
allele num: 672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 8.91628e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

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: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.400960384153662e-4
allele num: 8330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.34992e5

QD
type: SiteQuality
SIO_000300: 1.91e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.450780544445878e-5
allele num: 46506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.324503311258278e-4
allele num: 7550
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

FS
type: SiteQuality
SIO_000300: 3.194e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.237e-1

DP
type: SiteQuality
SIO_000300: 1.080525e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-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
all individuals: 414
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.129925452609159e-5
allele num: 46950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 2.141e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.087329e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 853
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GenotypeQuality
all individuals: 434
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.443001443001443e-4
allele num: 6930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.116449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.588e1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 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
all individuals: 298
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.559225512528474e-5
allele num: 56192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 4.056e0

VQSLOD
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.276665e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.78e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655903295247558e-5
allele num: 60390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.439e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 1.358765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-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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variant carriers: 4

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.597611664577422e-5
allele num: 60628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 2.154e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 259
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643115346697338e-5
allele num: 60860
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.369126e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63446765388513e-5
allele num: 61182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.375088e6

FS
type: SiteQuality
SIO_000300: 5.525e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
all individuals: 46330
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188777936281503e-4
allele num: 8412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

FS
type: SiteQuality
SIO_000300: 1.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 1.409221e6

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.142776328608693e-5
allele num: 63638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 7.569e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

DP
type: SiteQuality
SIO_000300: 1.419736e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -9.92e-2

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55938123752495e-5
allele num: 64128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.425323e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

FS
type: SiteQuality
SIO_000300: 3.945e0

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 5.93e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.107809926344905e-5
allele num: 64354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.474e1

DP
type: SiteQuality
SIO_000300: 1.430119e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.048e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
all individuals: 753
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 45768
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variant carriers: 0

GenotypeQuality
all individuals: 939
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variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.732277619695658e-5
allele num: 64664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

DP
type: SiteQuality
SIO_000300: 1.441453e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 1.732e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 2009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
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GenotypeQuality
all individuals: 1807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
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GenotypeQuality
all individuals: 764
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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 1.443525e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47025
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GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539314081645219e-5
allele num: 64964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

FS
type: SiteQuality
SIO_000300: 1.3107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.447944e6

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
all individuals: 223
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GenotypeQuality
all individuals: 424
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 1.451961e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65158
num of homozygotes: 0

European (Finnish)
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allele count: 0
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allele num: 6564
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African
type: Population
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allele num: 10250
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.453547e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

GenotypeQuality
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GenotypeQuality
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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: 350
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GenotypeQuality
all individuals: 1416
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65422
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 3.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.467998e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.582951420714941e-5
allele num: 65460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.36e0

FS
type: SiteQuality
SIO_000300: 3.807e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.745e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.469704e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527557130636686e-5
allele num: 65464
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.470244e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

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

African
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allele count: 2
allele frequency: 1.952743604764694e-4
allele num: 10242
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061661870063071e-5
allele num: 65324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.472753e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.745810055865922e-4
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 1.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 1.466799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
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African
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64910
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.778e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.466069e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541592156379108e-5
allele num: 64868
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10160
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Latino
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allele frequency: 0.0e0
allele num: 11448
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Other
type: Population
allele count: 0
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allele num: 896
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.398e-1

MQRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.463633e6

BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.085944771951598e-4
allele num: 64460
num of homozygotes: 0

East Asian
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9870
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.580028440511929e-5
allele num: 63290
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
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Other
type: Population
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South Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 888
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Latino
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South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.200102403276905e-5
allele num: 62498
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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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South Asian
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African
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allele frequency: 5.159958720330237e-4
allele num: 9690
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Latino
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Other
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East Asian
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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
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.606787068577672e-5
allele num: 62236
num of homozygotes: 0

DP
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MQ
type: SiteQuality
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
all individuals: 848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512960791976033e-5
allele num: 15354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.079e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.372932e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41664
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.013881377321075e-5
allele num: 11094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.659e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.357647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.592e0

FS
type: SiteQuality
SIO_000300: 3.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.767e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.109877913429523e-4
allele num: 9010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727951340890241e-5
allele num: 57872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 4.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.142525e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 1401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 7.5e0
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GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 4655
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variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.526963637004903e-5
allele num: 56706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.837e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

DP
type: SiteQuality
SIO_000300: 1.087384e6

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18045
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.753440589261484e-4
allele num: 10318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.478e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 5.922e0

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

DP
type: SiteQuality
SIO_000300: 1.074052e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
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variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.778283600668635e-5
allele num: 56234
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.049772e6

MQRankSum
type: SiteQuality
SIO_000300: -1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 1854
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
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variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.464128843338214e-4
allele num: 6830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.03327e6

FS
type: SiteQuality
SIO_000300: 2.551e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.961e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 18538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.709749220952664e-5
allele num: 53912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.632e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.77923e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

GenotypeQuality
all individuals: 1453
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13895
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3411
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GenotypeQuality
all individuals: 3465
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.037572843229146e-5
allele num: 49078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.262e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 9.41389e5

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.107481559536354e-5
allele num: 47450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12112
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

FS
type: SiteQuality
SIO_000300: 1.03e1

DP
type: SiteQuality
SIO_000300: 9.37896e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

QD
type: SiteQuality
SIO_000300: 1.605e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
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variant carriers: 0

GenotypeQuality
all individuals: 23834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 297
bin: 4.25e1
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GenotypeQuality
all individuals: 1033
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.425083526085839e-5
allele num: 15564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.617e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 1.958e0

DP
type: SiteQuality
SIO_000300: 1.791759e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 820
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9982
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.800812e6

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.674e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
all individuals: 836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.24687656171914e-5
allele num: 16008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 2.722e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 5.641e1

DP
type: SiteQuality
SIO_000300: 1.825008e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 7.25e1
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GenotypeQuality
all individuals: 4715
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.849084e6

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

GenotypeQuality
all individuals: 2221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26969
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variant carriers: 0

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

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.85016e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

GenotypeQuality
all individuals: 1630
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26921
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.850594e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4723
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

DP
type: SiteQuality
SIO_000300: 1.853715e6

FS
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7792
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.459e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

DP
type: SiteQuality
SIO_000300: 1.853812e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1634
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.459e0

DP
type: SiteQuality
SIO_000300: 1.853812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.853736e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

FS
type: SiteQuality
SIO_000300: 3.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.696e1

GenotypeQuality
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bin: 8.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10011
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GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 2.194e0

DP
type: SiteQuality
SIO_000300: 1.854113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.497e1

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1