14-90755014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755014
    reference: chr 14
allele count: 102
allele frequency: 8.41015154763279e-4
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1183G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.216G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.2012G>A
  hgvsp: ENSP00000350579.3:p.Arg671His
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2230G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2705G>A
  hgvsp: ENSP00000346335.3:p.Arg902His
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14913
  bin: 9.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg902His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-90755015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755015
    reference: chr 14
allele count: 277
allele frequency: 2.283594394064303e-3
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.2011C>T
  hgvsp: ENSP00000350579.3:p.Arg671Cys
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2229C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.215C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2704C>T
  hgvsp: ENSP00000346335.3:p.Arg902Cys
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1182C>T
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14997
  bin: 9.75e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg902Cys
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

14-90755016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755016
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755016
    reference: chr 14
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2703C>T
  hgvsp: ENST00000354366.3:c.2703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1181C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.214C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2228C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.2010C>T
  hgvsp: ENST00000357904.3:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14775
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser901Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-90755022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755022
    reference: chr 14
allele count: 4
allele frequency: 3.297663605335619e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2697C>T
  hgvsp: ENST00000354366.3:c.2697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1175C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2222C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.2004C>T
  hgvsp: ENST00000357904.3:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.208C>T
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser899Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-90755027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755027
    reference: chr 14
allele count: 23
allele frequency: 1.896156573067981e-4
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1999G>A
  hgvsp: ENSP00000350579.3:p.Asp667Asn
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.203G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1170G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2692G>A
  hgvsp: ENSP00000346335.3:p.Asp898Asn
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2217G>A
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14812
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7167
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp898Asn
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: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

14-90755028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755028
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.202C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1169C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2216C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2691C>T
  hgvsp: ENST00000354366.3:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1998C>T
  hgvsp: ENST00000357904.3:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr897Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-90755028-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755028
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1998C>A
  hgvsp: ENST00000357904.3:c.1998C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.202C>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2216C>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2691C>A
  hgvsp: ENST00000354366.3:c.2691C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1169C>A
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr897Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

14-90755031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755031
    reference: chr 14
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1995C>T
  hgvsp: ENST00000357904.3:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2213C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1166C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.199C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2688C>T
  hgvsp: ENST00000354366.3:c.2688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro896Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

14-90755050-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755050
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755050
    reference: chr 14
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1976G>C
  hgvsp: ENSP00000350579.3:p.Cys659Ser
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.180G>C
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2669G>C
  hgvsp: ENSP00000346335.3:p.Cys890Ser
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2194G>C
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1147G>C
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys890Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-90755065-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755065
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755066
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2178dupT
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2653dupT
  hgvsp: ENSP00000346335.3:p.Cys885LeufsTer4
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1960dupT
  hgvsp: ENSP00000350579.3:p.Cys654LeufsTer4
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.164dupT
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1131dupT
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys885LeufsTer4
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

14-90755076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755076
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755076
    reference: chr 14
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2168A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1950A>G
  hgvsp: ENST00000357904.3:c.1950A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.154A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2643A>G
  hgvsp: ENST00000354366.3:c.2643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1121A>G
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala881Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

14-90755078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755078
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755078
    reference: chr 14
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2641G>A
  hgvsp: ENSP00000346335.3:p.Ala881Thr
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.152G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1119G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2166G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1948G>A
  hgvsp: ENSP00000350579.3:p.Ala650Thr
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala881Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-90755079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755079
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755079
    reference: chr 14
allele count: 216
allele frequency: 1.781237630294234e-3
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.151C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2640C>T
  hgvsp: ENST00000354366.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1947C>T
  hgvsp: ENST00000357904.3:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2165C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1118C>T
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19284
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His880His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

14-90755085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755085
    reference: chr 14
allele count: 5
allele frequency: 4.123439278233189e-5
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2634T>C
  hgvsp: ENST00000354366.3:c.2634T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.145T>C
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2159T>C
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1941T>C
  hgvsp: ENST00000357904.3:c.1941T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1112T>C
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr878Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-90755090-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755090
    reference: chr 14
allele count: 7
allele frequency: 5.773767300681305e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1107G>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2154G>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1936G>T
  hgvsp: ENSP00000350579.3:p.Ala646Ser
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2629G>T
  hgvsp: ENSP00000346335.3:p.Ala877Ser
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.140G>T
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14722
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala877Ser
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: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

14-90755090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755090
    reference: chr 14
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1936G>A
  hgvsp: ENSP00000350579.3:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1107G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.140G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2154G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2629G>A
  hgvsp: ENSP00000346335.3:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala877Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

14-90755095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755095
    reference: chr 14
allele count: 3
allele frequency: 2.474839135456195e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.135G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2149G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1102G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1931G>A
  hgvsp: ENSP00000350579.3:p.Arg644Gln
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2624G>A
  hgvsp: ENSP00000346335.3:p.Arg875Gln
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg875Gln
num of homozygotes: 1
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

14-90755096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755096
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755096
    reference: chr 14
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1101C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2148C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1930C>T
  hgvsp: ENSP00000350579.3:p.Arg644Ter
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2623C>T
  hgvsp: ENSP00000346335.3:p.Arg875Ter
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.134C>T
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg875Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-90755097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755097
    reference: chr 14
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1929G>A
  hgvsp: ENST00000357904.3:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2622G>A
  hgvsp: ENST00000354366.3:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2147G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.133G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1100G>A
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14717
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala874Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

14-90755111-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755111
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755111
    reference: chr 14
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2608C>A
  hgvsp: ENSP00000346335.3:p.His870Asn
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.119C>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2133C>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1915C>A
  hgvsp: ENSP00000350579.3:p.His639Asn
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1086C>A
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His870Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-90755116-GCCAACAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755116
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755109
    reference: chr 14
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1903_1909delGTGTTGG
  hgvsp: ENSP00000350579.3:p.Val635LeufsTer5
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2596_2602delGTGTTGG
  hgvsp: ENSP00000346335.3:p.Val866LeufsTer5
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.107_113delGTGTTGG
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val866LeufsTer5
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: GCCAACAC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

11-66373271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373271
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373271
    reference: chr 11
allele count: 4
allele frequency: 3.48256107541486e-5
allele num: 114858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.581G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.713G>A
  hgvsp: ENSP00000307870.4:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.770G>A
  hgvsp: ENSP00000436318.1:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg257Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-66373276-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373276
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373276
    reference: chr 11
allele count: 9
allele frequency: 7.90680512360972e-5
allele num: 113826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*210A>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.718A>G
  hgvsp: ENSP00000307870.4:p.Ile240Val
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.775A>G
  hgvsp: ENSP00000436318.1:p.Ile259Val
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.586A>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1089A>G
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile259Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

11-66373279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373279
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373279
    reference: chr 11
allele count: 3
allele frequency: 2.662643117067542e-5
allele num: 112670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*213G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.589G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.778G>A
  hgvsp: ENSP00000436318.1:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.721G>A
  hgvsp: ENSP00000307870.4:p.Ala241Thr
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1092G>A
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala260Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-66373284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373284
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373284
    reference: chr 11
allele count: 3
allele frequency: 2.682979180081563e-5
allele num: 111816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.594C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.783C>T
  hgvsp: ENST00000533244.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.726C>T
  hgvsp: ENST00000310190.4:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1097C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly261Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-66373289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373289
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373289
    reference: chr 11
allele count: 83
allele frequency: 7.501265273660618e-4
allele num: 110648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.599G>C
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.731G>C
  hgvsp: ENSP00000307870.4:p.Gly244Ala
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1102G>C
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.788G>C
  hgvsp: ENSP00000436318.1:p.Gly263Ala
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*223G>C
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12491
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 23694
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly263Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-90755121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755121
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755121
    reference: chr 14
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2598G>A
  hgvsp: ENST00000354366.3:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1905G>A
  hgvsp: ENST00000357904.3:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.109G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1076G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2123G>A
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val866Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

14-90755132-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755132
    reference: chr 14
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2112A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1894A>G
  hgvsp: ENSP00000350579.3:p.Thr632Ala
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2587A>G
  hgvsp: ENSP00000346335.3:p.Thr863Ala
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.98A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1065A>G
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr863Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-90755141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755141
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755141
    reference: chr 14
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2103G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.89G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1885G>A
  hgvsp: ENSP00000350579.3:p.Gly629Arg
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1056G>A
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2578G>A
  hgvsp: ENSP00000346335.3:p.Gly860Arg
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly860Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-90755143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755143
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755143
    reference: chr 14
allele count: 12
allele frequency: 9.909493294576204e-5
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1054A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1883A>G
  hgvsp: ENSP00000350579.3:p.Tyr628Cys
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.87A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2101A>G
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2576A>G
  hgvsp: ENSP00000346335.3:p.Tyr859Cys
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14717
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr859Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

14-90755145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90755145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 90755145
    reference: chr 14
allele count: 643
allele frequency: 5.310275341492823e-3
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000451025
  ensembl transcript: ENST00000553409
  gene symbol: NRDE2
  hgvsc: ENST00000553409.1:c.*2099C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119720
  ensembl transcript: ENST00000555903
  gene symbol: NRDE2
  hgvsc: ENST00000555903.1:n.85C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000452107
  ensembl transcript: ENST00000556189
  gene symbol: NRDE2
  hgvsc: ENST00000556189.1:c.*1052C>T
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000350579
  ensembl transcript: ENST00000357904
  gene symbol: NRDE2
  hgvsc: ENST00000357904.3:c.1881C>T
  hgvsp: ENST00000357904.3:c.1881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119720
  ensembl protein: ENSP00000346335
  ensembl transcript: ENST00000354366
  gene symbol: NRDE2
  hgvsc: ENST00000354366.3:c.2574C>T
  hgvsp: ENST00000354366.3:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14400
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 4.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15072
  bin: 9.75e1
  variant carriers: 637
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro858Pro
num of homozygotes: 4
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-66373291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373291
    reference: chr 11
allele count: 4
allele frequency: 3.644182063335885e-5
allele num: 109764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.790C>T
  hgvsp: ENSP00000436318.1:p.Arg264Ter
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.601C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.733C>T
  hgvsp: ENSP00000307870.4:p.Arg245Ter
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1104C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg264Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-66373292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373292
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373292
    reference: chr 11
allele count: 7
allele frequency: 6.391876837664591e-5
allele num: 109514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1105G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.791G>A
  hgvsp: ENSP00000436318.1:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.734G>A
  hgvsp: ENSP00000307870.4:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.602G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg264Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

11-66373303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373303
    reference: chr 11
allele count: 1
allele frequency: 9.620379812595001e-6
allele num: 103946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1116G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.802G>T
  hgvsp: ENSP00000436318.1:p.Ala268Ser
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.745G>T
  hgvsp: ENSP00000307870.4:p.Ala249Ser
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*237G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.613G>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25555
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala268Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

11-66373304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373304
    reference: chr 11
allele count: 1
allele frequency: 9.697251798840209e-6
allele num: 103122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1117C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.746C>T
  hgvsp: ENSP00000307870.4:p.Ala249Val
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.614C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.803C>T
  hgvsp: ENSP00000436318.1:p.Ala268Val
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala268Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-66373305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373305
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373305
    reference: chr 11
allele count: 13833
allele frequency: 1.369739578176057e-1
allele num: 100990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.747G>A
  hgvsp: ENST00000310190.4:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*239G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1118G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.615G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.804G>A
  hgvsp: ENST00000533244.1:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 1865
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 1138
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17316
  bin: 2.75e1
  variant carriers: 2433
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 1.75e1
  variant carriers: 1846
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 700
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 1.25e1
  variant carriers: 1144
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 2.25e1
  variant carriers: 2564
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 7.5e0
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 12073
  bin: 9.75e1
  variant carriers: 11929
genotype quality: GenotypeQuality
  all individuals: 20700
  bin: 6.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 152
hgvs: p.Ala268Ala
num of homozygotes: 971
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-66373308-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373308
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373307
    reference: chr 11
allele count: 4
allele frequency: 4.176324416880703e-5
allele num: 95778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.755delC
  hgvsp: ENSP00000307870.4:p.Pro252LeufsTer?
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1126delC
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.812delC
  hgvsp: ENSP00000436318.1:p.Pro271LeufsTer?
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*247delC
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.623delC
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro271LeufsTer?
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: GC
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-66373312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373312
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373312
    reference: chr 11
allele count: 1
allele frequency: 1.06965599863084e-5
allele num: 93488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.754C>T
  hgvsp: ENSP00000307870.4:p.Pro252Ser
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.811C>T
  hgvsp: ENSP00000436318.1:p.Pro271Ser
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.622C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1125C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro271Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-66373333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373333
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373333
    reference: chr 11
allele count: 1
allele frequency: 1.254957080467848e-5
allele num: 79684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*7C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.643C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-66373336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373336
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 77456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*10C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*270C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1149C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.646C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16607
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-66373342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373342
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373342
    reference: chr 11
allele count: 3
allele frequency: 4.067245119305857e-5
allele num: 73760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*276G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1155G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*16G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.652G>A
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9820
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

11-66373345-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373345
    reference: chr 11
allele count: 2
allele frequency: 2.824380048579337e-5
allele num: 70812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*279T>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.655T>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*19T>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*19T>G
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1158T>G
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-66373346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373346
    reference: chr 11
allele count: 1
allele frequency: 1.414067139907803e-5
allele num: 70718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*20C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1159C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.656C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

11-66373357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373357
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373357
    reference: chr 11
allele count: 2
allele frequency: 3.292614665305719e-5
allele num: 60742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*31C>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.667C>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21567
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

11-66373364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373364
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373364
    reference: chr 11
allele count: 3
allele frequency: 5.622399640166423e-5
allele num: 53358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1177G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*298G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*38G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*38G>T
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.674G>T
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18710
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

11-66373366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66373366
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66373366
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 51220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000433609
  ensembl transcript: ENST00000530961
  gene symbol: CCS
  hgvsc: ENST00000530961.1:c.*300G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000525435
  gene symbol: CCS
  hgvsc: ENST00000525435.1:n.676G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173992
  ensembl transcript: ENST00000530384
  gene symbol: CCS
  hgvsc: ENST00000530384.1:n.1179G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000436318
  ensembl transcript: ENST00000533244
  gene symbol: CCS
  hgvsc: ENST00000533244.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/1613
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173992
  ensembl protein: ENSP00000307870
  ensembl transcript: ENST00000310190
  gene symbol: CCS
  hgvsc: ENST00000310190.4:c.*40G>A
  variant of: http://identifiers.org/hgnc/1613
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-66384143-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384143
    reference: chr 11
allele count: 1627
allele frequency: 1.763226911155905e-2
allele num: 92274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-49C>A
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-49C>A
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-398C>A
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-49C>A
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-49C>A
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-49C>A
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-49C>A
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.43C>A
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.43C>A
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 1.75e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 7.5e0
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.25e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16756
  bin: 1.25e1
  variant carriers: 510
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 2.75e1
  variant carriers: 6
num of homozygotes: 13
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-66384143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384143
    reference: chr 11
allele count: 279
allele frequency: 3.023603615319592e-3
allele num: 92274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-49C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.43C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-398C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.43C>T
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 1.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 7.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16756
  bin: 1.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 5
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-66384145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384145
    reference: chr 11
allele count: 1
allele frequency: 1.07670442310177e-5
allele num: 92876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-47C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-47C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-396C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.45C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-47C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.45C>T
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

11-66384146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384146
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384146
    reference: chr 11
allele count: 2
allele frequency: 2.146567638346284e-5
allele num: 93172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-46T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-46T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.46T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-46T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-46T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-395T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.46T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-46T>C
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16651
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-66384153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384153
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384153
    reference: chr 11
allele count: 1
allele frequency: 1.065257685834203e-5
allele num: 93874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.53G>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-39G>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-39G>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-39G>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-39G>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-39G>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.53G>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-39G>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-388G>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-39G>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-39G>C
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-66384163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384163
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384163
    reference: chr 11
allele count: 1
allele frequency: 1.038055099964706e-5
allele num: 96334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-29C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-29C>G
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.63C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-29C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-378C>G
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.63C>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-66384163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384163
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384163
    reference: chr 11
allele count: 3
allele frequency: 3.114165299894119e-5
allele num: 96334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-29C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-29C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-29C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.63C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.63C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-378C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23125
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11648
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

11-66384165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384165
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384165
    reference: chr 11
allele count: 1
allele frequency: 1.028235342505193e-5
allele num: 97254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-27C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-27C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-27C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.65C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-376C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-27C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.65C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-27C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

11-66384176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384176
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384176
    reference: chr 11
allele count: 2
allele frequency: 1.96232339089482e-5
allele num: 101920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-16T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-16T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-16T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-16T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.76T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-16T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-365T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.76T>C
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-66384179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384179
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384179
    reference: chr 11
allele count: 11
allele frequency: 1.064282673478076e-4
allele num: 103356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-13C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-13C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.79C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-13C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.79C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-362C>T
  variant of: http://identifiers.org/hgnc/9901
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-66384182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384182
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384182
    reference: chr 11
allele count: 1
allele frequency: 9.54653937947494e-6
allele num: 104750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-359C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.82C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-10C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.82C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-10C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-66384188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384188
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384188
    reference: chr 11
allele count: 4
allele frequency: 3.695628071990835e-5
allele num: 108236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-353C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-4C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.88C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.88C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-4C>T
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-66384190-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384190
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384190
    reference: chr 11
allele count: 1
allele frequency: 9.15616759449165e-6
allele num: 109216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.-2A>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.-2A>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.-2A>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.90A>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.-2A>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-351A>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.-2A>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.-2A>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.-2A>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.-2A>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.-2A>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.90A>C
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

11-66384193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384193
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384193
    reference: chr 11
allele count: 1
allele frequency: 9.077540349666854e-6
allele num: 110162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.2T>C
  hgvsp: ENSP00000377548.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-348T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.93T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.2T>C
  hgvsp: ENSP00000386518.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.2T>C
  hgvsp: ENSP00000395880.1:p.Met1?
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.2T>C
  hgvsp: ENSP00000311747.4:p.Met1?
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.2T>C
  hgvsp: ENSP00000425446.3:p.Met1?
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.2T>C
  hgvsp: ENSP00000386995.4:p.Met1?
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.2T>C
  hgvsp: ENSP00000388552.2:p.Met1?
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.2T>C
  hgvsp: ENSP00000421279.1:p.Met1?
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.93T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.2T>C
  hgvsp: ENSP00000414650.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-66384198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384198
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384198
    reference: chr 11
allele count: 1
allele frequency: 8.986179256303804e-6
allele num: 111282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.7A>G
  hgvsp: ENSP00000395880.1:p.Ile3Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.7A>G
  hgvsp: ENSP00000386518.1:p.Ile3Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.7A>G
  hgvsp: ENSP00000388552.2:p.Ile3Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.7A>G
  hgvsp: ENSP00000377548.3:p.Ile3Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.7A>G
  hgvsp: ENSP00000311747.4:p.Ile3Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-343A>G
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.98A>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.7A>G
  hgvsp: ENSP00000425446.3:p.Ile3Val
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.7A>G
  hgvsp: ENSP00000386995.4:p.Ile3Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.98A>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.7A>G
  hgvsp: ENSP00000414650.1:p.Ile3Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.7A>G
  hgvsp: ENSP00000421279.1:p.Ile3Val
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile3Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

11-66384206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384206
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384206
    reference: chr 11
allele count: 3
allele frequency: 2.653082882309243e-5
allele num: 113076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.15G>A
  hgvsp: ENST00000409738.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.15G>A
  hgvsp: ENST00000393979.3:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.106G>A
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.106G>A
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.15G>A
  hgvsp: ENST00000500635.2:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.15G>A
  hgvsp: ENST00000412278.2:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.15G>A
  hgvsp: ENST00000514361.3:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.15G>A
  hgvsp: ENST00000421355.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.15G>A
  hgvsp: ENST00000443702.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.15G>A
  hgvsp: ENST00000310137.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.15G>A
  hgvsp: ENST00000409372.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-335G>A
  variant of: http://identifiers.org/hgnc/9901
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37838
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val5Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS

11-66384218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384218
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384218
    reference: chr 11
allele count: 3
allele frequency: 2.60059987170374e-5
allele num: 115358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.27C>T
  hgvsp: ENST00000421355.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.27C>T
  hgvsp: ENST00000310137.4:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.27C>T
  hgvsp: ENST00000500635.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.27C>T
  hgvsp: ENST00000409738.4:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-323C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.118C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.27C>T
  hgvsp: ENST00000393979.3:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.118C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.27C>T
  hgvsp: ENST00000443702.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.27C>T
  hgvsp: ENST00000412278.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.27C>T
  hgvsp: ENST00000514361.3:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.27C>T
  hgvsp: ENST00000409372.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp9Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

11-66384223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384223
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384223
    reference: chr 11
allele count: 5
allele frequency: 4.314510561921856e-5
allele num: 115888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.32C>T
  hgvsp: ENSP00000395880.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.32C>T
  hgvsp: ENSP00000311747.4:p.Ala11Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.32C>T
  hgvsp: ENSP00000421279.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.32C>T
  hgvsp: ENSP00000386995.4:p.Ala11Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-318C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.32C>T
  hgvsp: ENSP00000377548.3:p.Ala11Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.32C>T
  hgvsp: ENSP00000388552.2:p.Ala11Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.32C>T
  hgvsp: ENSP00000386518.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.32C>T
  hgvsp: ENSP00000425446.3:p.Ala11Val
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.123C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.32C>T
  hgvsp: ENSP00000414650.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.123C>T
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

11-66384228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384228
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384228
    reference: chr 11
allele count: 2
allele frequency: 1.720607718646226e-5
allele num: 116238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.37A>G
  hgvsp: ENSP00000425446.3:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.37A>G
  hgvsp: ENSP00000377548.3:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.37A>G
  hgvsp: ENSP00000395880.1:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.37A>G
  hgvsp: ENSP00000421279.1:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-313A>G
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.37A>G
  hgvsp: ENSP00000414650.1:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.37A>G
  hgvsp: ENSP00000311747.4:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.37A>G
  hgvsp: ENSP00000386518.1:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.37A>G
  hgvsp: ENSP00000388552.2:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.128A>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.37A>G
  hgvsp: ENSP00000386995.4:p.Thr13Ala
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.128A>G
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr13Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-66384250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384250
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384250
    reference: chr 11
allele count: 1
allele frequency: 8.556808652644909e-6
allele num: 116866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-291C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.59C>T
  hgvsp: ENSP00000388552.2:p.Ala20Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.59C>T
  hgvsp: ENSP00000425446.3:p.Ala20Val
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.59C>T
  hgvsp: ENSP00000377548.3:p.Ala20Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.59C>T
  hgvsp: ENSP00000386518.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.59C>T
  hgvsp: ENSP00000414650.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.59C>T
  hgvsp: ENSP00000386995.4:p.Ala20Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.150C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.59C>T
  hgvsp: ENSP00000395880.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.59C>T
  hgvsp: ENSP00000311747.4:p.Ala20Val
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.150C>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.59C>T
  hgvsp: ENSP00000421279.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala20Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

11-66384257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384257
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384257
    reference: chr 11
allele count: 1
allele frequency: 8.542335816305611e-6
allele num: 117064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.157T>C
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.157T>C
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.66T>C
  hgvsp: ENST00000421355.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.66T>C
  hgvsp: ENST00000500635.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.66T>C
  hgvsp: ENST00000443702.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.66T>C
  hgvsp: ENST00000310137.4:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.66T>C
  hgvsp: ENST00000514361.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-284T>C
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.66T>C
  hgvsp: ENST00000409738.4:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.66T>C
  hgvsp: ENST00000412278.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.66T>C
  hgvsp: ENST00000393979.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.66T>C
  hgvsp: ENST00000409372.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe22Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

11-66384259-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384259
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384259
    reference: chr 11
allele count: 1
allele frequency: 8.545547769612032e-6
allele num: 117020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.68C>G
  hgvsp: ENSP00000414650.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.68C>G
  hgvsp: ENSP00000386995.4:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.159C>G
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.68C>G
  hgvsp: ENSP00000311747.4:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.68C>G
  hgvsp: ENSP00000388552.2:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.68C>G
  hgvsp: ENSP00000377548.3:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.68C>G
  hgvsp: ENSP00000425446.3:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.68C>G
  hgvsp: ENSP00000395880.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.68C>G
  hgvsp: ENSP00000386518.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.159C>G
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.68C>G
  hgvsp: ENSP00000421279.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-282C>G
  variant of: http://identifiers.org/hgnc/9901
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala23Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-66384261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384261
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384261
    reference: chr 11
allele count: 2
allele frequency: 1.708292049608801e-5
allele num: 117076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.70C>T
  hgvsp: ENSP00000395880.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.70C>T
  hgvsp: ENSP00000311747.4:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.70C>T
  hgvsp: ENSP00000386518.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.70C>T
  hgvsp: ENSP00000414650.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.70C>T
  hgvsp: ENSP00000377548.3:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.70C>T
  hgvsp: ENSP00000425446.3:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-280C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.70C>T
  hgvsp: ENSP00000388552.2:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.70C>T
  hgvsp: ENSP00000386995.4:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.161C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.70C>T
  hgvsp: ENSP00000421279.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.161C>T
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro24Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-66384265-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384265
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384265
    reference: chr 11
allele count: 1
allele frequency: 8.539563799081142e-6
allele num: 117102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.74A>T
  hgvsp: ENSP00000386995.4:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.165A>T
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-276A>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.74A>T
  hgvsp: ENSP00000388552.2:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.74A>T
  hgvsp: ENSP00000386518.1:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.74A>T
  hgvsp: ENSP00000377548.3:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.74A>T
  hgvsp: ENSP00000395880.1:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.74A>T
  hgvsp: ENSP00000414650.1:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.74A>T
  hgvsp: ENSP00000421279.1:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.74A>T
  hgvsp: ENSP00000311747.4:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.74A>T
  hgvsp: ENSP00000425446.3:p.Tyr25Phe
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.165A>T
  variant of: http://identifiers.org/hgnc/38840
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr25Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-66384271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384271
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384271
    reference: chr 11
allele count: 3
allele frequency: 2.562000409920066e-5
allele num: 117096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000377548
  ensembl transcript: ENST00000393979
  gene symbol: RBM14
  hgvsc: ENST00000393979.3:c.80C>T
  hgvsp: ENSP00000377548.3:p.Thr27Met
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425760
  ensembl transcript: ENST00000503028
  gene symbol: RBM4
  hgvsc: ENST00000503028.2:c.-270C>T
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386518
  ensembl transcript: ENST00000409372
  gene symbol: RBM14
  hgvsc: ENST00000409372.1:c.80C>T
  hgvsp: ENSP00000386518.1:p.Thr27Met
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000388552
  ensembl transcript: ENST00000412278
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000412278.2:c.80C>T
  hgvsp: ENSP00000388552.2:p.Thr27Met
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000395880
  ensembl transcript: ENST00000421355
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000421355.1:c.80C>T
  hgvsp: ENSP00000395880.1:p.Thr27Met
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.80C>T
  hgvsp: ENSP00000311747.4:p.Thr27Met
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.80C>T
  hgvsp: ENSP00000386995.4:p.Thr27Met
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000173933
  ensembl protein: ENSP00000425446
  ensembl transcript: ENST00000514361
  gene symbol: RBM4
  hgvsc: ENST00000514361.3:c.80C>T
  hgvsp: ENSP00000425446.3:p.Thr27Met
  variant of: http://identifiers.org/hgnc/9901
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248643
  ensembl protein: ENSP00000421279
  ensembl transcript: ENST00000500635
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000500635.2:c.80C>T
  hgvsp: ENSP00000421279.1:p.Thr27Met
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248643
  ensembl transcript: ENST00000511114
  gene symbol: RBM14-RBM4
  hgvsc: ENST00000511114.1:n.171C>T
  variant of: http://identifiers.org/hgnc/38840
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000414650
  ensembl transcript: ENST00000443702
  gene symbol: RBM14
  hgvsc: ENST00000443702.1:c.80C>T
  hgvsp: ENSP00000414650.1:p.Thr27Met
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239306
  ensembl transcript: ENST00000512283
  gene symbol: RBM14
  hgvsc: ENST00000512283.1:n.171C>T
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr27Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-66384272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66384272
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66384272
    reference: chr 11
allele count: 1
allele frequency: 8.537813978109045e-6
allele num: 117126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000311747
  ensembl transcript: ENST00000310137
  gene symbol: RBM14
  hgvsc: ENST00000310137.4:c.81G>A
  hgvsp: ENST00000310137.4:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239306
  ensembl protein: ENSP00000386995
  ensembl transcript: ENST00000409738
  gene symbol: RBM14
  hgvsc: ENST00000409738.4:c.81G>A
  hgvsp: ENST00000409738.4:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14219
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Thr27Thr
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 84
allele frequency: 8.083140877598153e-3
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.100462101662366e-4
allele num: 66652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.078824e6

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7122
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 2.325302289297609e-3
allele num: 66658
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.161134163208852e-3
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 1

South Asian
type: Population
allele count: 80
allele frequency: 4.845548152634767e-3
allele num: 16510
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 2.082911e6

QD
type: SiteQuality
SIO_000300: 1.379e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 2661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4884
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500720115218435e-5
allele num: 66656
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

FS
type: SiteQuality
SIO_000300: 5.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 2.075585e6

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

GenotypeQuality
all individuals: 3277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14772
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19206
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.708e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

DP
type: SiteQuality
SIO_000300: 2.075229e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14778
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 3822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
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: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 20
allele frequency: 2.311604253351826e-3
allele num: 8652
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

DP
type: SiteQuality
SIO_000300: 2.075784e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
all individuals: 7173
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4877
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 1.656e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.075159e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 3276
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 11566
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.656e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.075159e6

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 3820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2661
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

DP
type: SiteQuality
SIO_000300: 2.075049e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 2.265e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14760
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.074156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 1.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

GenotypeQuality
all individuals: 14756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 2.073297e6

MQ
type: SiteQuality
SIO_000300: 6.034e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 3.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

GenotypeQuality
all individuals: 7150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14754
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.072279e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.929e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

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

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 2.072515e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 1.773e0

QD
type: SiteQuality
SIO_000300: 1.353e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
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variant carriers: 216

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 208
allele frequency: 2.006172839506173e-2
allele num: 10368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.076335e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
all individuals: 19374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7128
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variant carriers: 0

GenotypeQuality
all individuals: 14722
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 5
allele frequency: 4.824392126592049e-4
allele num: 10364
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 1.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

DP
type: SiteQuality
SIO_000300: 2.070984e6

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 3266
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GenotypeQuality
all individuals: 4848
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variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050420168067227e-4
allele num: 66640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.070135e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

FS
type: SiteQuality
SIO_000300: 1.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
all individuals: 2665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 4848
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 2.070135e6

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3267
bin: 9.25e1
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GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

QD
type: SiteQuality
SIO_000300: 2.249e1

DP
type: SiteQuality
SIO_000300: 2.068776e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

FS
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3781
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GenotypeQuality
all individuals: 14716
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.06856e6

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.118e0

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3260
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GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.068728e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.212e0

QD
type: SiteQuality
SIO_000300: 1.27e1

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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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.066846e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.133e0

FS
type: SiteQuality
SIO_000300: 8.45e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.08e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7037
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GenotypeQuality
all individuals: 292
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GenotypeQuality
all individuals: 3262
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 4.85e0

DP
type: SiteQuality
SIO_000300: 2.065823e6

MQ
type: SiteQuality
SIO_000300: 5.372e1

GenotypeQuality
all individuals: 720
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 341
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GenotypeQuality
all individuals: 2057
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GenotypeQuality
all individuals: 483
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GenotypeQuality
all individuals: 581
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 3
allele frequency: 4.632775341281117e-5
allele num: 64756
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: 10072
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.826125330979699e-5
allele num: 11330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.078e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.588451e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.573e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 398
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.045052292839903e-4
allele num: 9944
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12702
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: 1.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.562238e6

GenotypeQuality
all individuals: 33548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564798297499452e-5
allele num: 63906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.102414519526819e-5
allele num: 12342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

FS
type: SiteQuality
SIO_000300: 1.001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.53923e6

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 887
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57425773747678e-5
allele num: 63522
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.215576733486691e-5
allele num: 12172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 1.792e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.515917e6

GenotypeQuality
all individuals: 585
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 1.127163041752659e-3
allele num: 62990
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.222493887530562e-3
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.13564929693962e-4
allele num: 9672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.153212520593081e-3
allele num: 6070
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 2.471e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.487411e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeQuality
all individuals: 14713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19111
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 2.065486e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.046e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.792e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.341e0

DP
type: SiteQuality
SIO_000300: 2.063398e6

MQ
type: SiteQuality
SIO_000300: 5.876e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.281e0

FS
type: SiteQuality
SIO_000300: 6.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6936
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 7.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 2.611e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.94e0

DP
type: SiteQuality
SIO_000300: 2.061384e6

QD
type: SiteQuality
SIO_000300: 7.7e0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.668283220174588e-4
allele num: 16496
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 4.087e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 2.060767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 6859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.594194133655882e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.166861143523921e-3
allele num: 10284
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.076843198338525e-3
allele num: 11556
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: 60
allele frequency: 3.638127577007034e-3
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 507
allele frequency: 7.61398450171202e-3
allele num: 66588
num of homozygotes: 4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

DP
type: SiteQuality
SIO_000300: 2.070168e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 31927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
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: 4
allele frequency: 6.38630775617077e-5
allele num: 62634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 1.472106e6

QD
type: SiteQuality
SIO_000300: 1.122e1

FS
type: SiteQuality
SIO_000300: 1.891e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.39488409272582e-5
allele num: 62550
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.134141245298788e-4
allele num: 9572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.470092e6

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.558e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 3.776e0

DP
type: SiteQuality
SIO_000300: 1.36045e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

GenotypeQuality
all individuals: 1508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.677796047112513e-5
allele num: 59602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0494e1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

DP
type: SiteQuality
SIO_000300: 1.350599e6

GenotypeQuality
all individuals: 530
bin: 1.75e1
variant carriers: 46

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 110

GenotypeQuality
all individuals: 3561
bin: 6.75e1
variant carriers: 118

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 154

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 91

GenotypeQuality
all individuals: 12417
bin: 2.25e1
variant carriers: 62

European (Finnish)
type: Population
allele count: 1052
allele frequency: 1.918307804522247e-1
allele num: 5484
num of homozygotes: 82

African
type: Population
allele count: 274
allele frequency: 3.056671128960286e-2
allele num: 8964
num of homozygotes: 5

Other
type: Population
allele count: 113
allele frequency: 1.547945205479452e-1
allele num: 730
num of homozygotes: 5

East Asian
type: Population
allele count: 255
allele frequency: 3.356146354303764e-2
allele num: 7598
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 9526
allele frequency: 1.62704106032657e-1
allele num: 58548
num of homozygotes: 690

Latino
type: Population
allele count: 703
allele frequency: 7.469188270293242e-2
allele num: 9412
num of homozygotes: 27

South Asian
type: Population
allele count: 1910
allele frequency: 1.86268773161693e-1
allele num: 10254
num of homozygotes: 158

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

DP
type: SiteQuality
SIO_000300: 1.311017e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.484e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

FS
type: SiteQuality
SIO_000300: 1.596e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17520
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.188297451748553e-5
allele num: 55646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.57e0

DP
type: SiteQuality
SIO_000300: 1.172173e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeQuality
all individuals: 25087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.153934918070621e-4
allele num: 8666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.128728e6

VQSLOD
type: SiteQuality
SIO_000300: -4.11e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

GenotypeQuality
all individuals: 29111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.133834073062479e-5
allele num: 46864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4044
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.83953e5

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

GenotypeQuality
all individuals: 30070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12091
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.45499e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 4.771e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 3672
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.889266522757543e-5
allele num: 43546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

DP
type: SiteQuality
SIO_000300: 7.85401e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 1.642e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.778515792994696e-5
allele num: 41854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

QD
type: SiteQuality
SIO_000300: 9.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 7.3915e5

GenotypeQuality
all individuals: 7547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
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GenotypeQuality
all individuals: 7006
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.382743362831858e-4
allele num: 7232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.38262e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 131
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.418912947414936e-4
allele num: 4526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.30298e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 131
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31822
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.183017312448475e-4
allele num: 4852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4368
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 5.81239e5

QD
type: SiteQuality
SIO_000300: 1.035e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 5.69835e5

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 3.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 860
bin: 5.75e1
variant carriers: 22

GenotypeQuality
all individuals: 8242
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 31

GenotypeQuality
all individuals: 2614
bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2195
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 2263
bin: 9.75e1
variant carriers: 1572

GenotypeQuality
all individuals: 2690
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 34

GenotypeQuality
all individuals: 6645
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3860
bin: 5.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1050
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1491
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 38

GenotypeQuality
all individuals: 675
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6310
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 5094
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 7180
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 3131
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 20

Latino
type: Population
allele count: 132
allele frequency: 1.348314606741573e-2
allele num: 9790
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 2.848101265822785e-2
allele num: 632
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 114
allele frequency: 2.331288343558282e-2
allele num: 4890
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.770150806032241e-3
allele num: 7692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 85
allele frequency: 9.608862762830657e-3
allele num: 8846
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1249
allele frequency: 2.348362350994623e-2
allele num: 53186
num of homozygotes: 10

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.28917e5

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2690
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4168
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6645
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1050
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 675
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2195
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variant carriers: 2

GenotypeQuality
all individuals: 5094
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7180
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8242
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2263
bin: 9.75e1
variant carriers: 266

GenotypeQuality
all individuals: 2614
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3131
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 5.25e1
variant carriers: 7

East Asian
type: Population
allele count: 3
allele frequency: 4.144791378833932e-4
allele num: 7238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.021450459652707e-3
allele num: 9790
num of homozygotes: 0

African
type: Population
allele count: 254
allele frequency: 3.302132085283412e-2
allele num: 7692
num of homozygotes: 5

South Asian
type: Population
allele count: 1
allele frequency: 1.13045444268596e-4
allele num: 8846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.068213439626969e-4
allele num: 53186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.28917e5

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
all individuals: 937
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6487
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 6889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 9152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 628
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variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9360
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2937
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2084
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.015434606011373e-4
allele num: 9848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

DP
type: SiteQuality
SIO_000300: 9.32461e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

GenotypeQuality
all individuals: 1745
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6875
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
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variant carriers: 0

GenotypeQuality
all individuals: 4632
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
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variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
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variant carriers: 0

GenotypeQuality
all individuals: 458
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GenotypeQuality
all individuals: 2985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6465
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variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.862544235425591e-5
allele num: 53690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.372872048325096e-4
allele num: 7284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 7.07e0

FS
type: SiteQuality
SIO_000300: 2.681e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 9.38595e5

GenotypeQuality
all individuals: 298
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 683
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 461
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10358
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GenotypeQuality
all individuals: 2731
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GenotypeQuality
all individuals: 914
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 1033
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GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 2425
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GenotypeQuality
all individuals: 3321
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.851097700936655e-5
allele num: 54022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.721e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.764e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.79302e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.49e0

GenotypeQuality
all individuals: 3508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1220
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GenotypeQuality
all individuals: 10402
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.810741317495383e-5
allele num: 55226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.417e0

DP
type: SiteQuality
SIO_000300: 1.073949e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 568
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 478
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 1696
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GenotypeQuality
all individuals: 596
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GenotypeQuality
all individuals: 244
bin: 2.5e0
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GenotypeQuality
all individuals: 767
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
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
allele num: 9548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.945797329143755e-4
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55226
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
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SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 1.073949e6

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
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SIO_000300: -1.417e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

African
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allele frequency: 1.2306177701206e-4
allele num: 8126
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.875e0

InbreedingCoeff
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SIO_000300: -3.0e-3

ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.095381e6

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10582
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

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

East Asian
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allele 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: 708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.454112120479431e-5
allele num: 57902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
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SIO_000300: 2.54e0

VQSLOD
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SIO_000300: 3.79e0

DP
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InbreedingCoeff
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SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.123e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 11
allele frequency: 1.357689459392743e-3
allele num: 8102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 3.88e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
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SIO_000300: -2.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 1.231855e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689874273354063e-5
allele num: 59176
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.258476e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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VQSLOD
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SIO_000300: -2.06e-2

InbreedingCoeff
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SIO_000300: -7.0e-4

MQRankSum
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.60022440762986e-5
allele num: 60604
num of homozygotes: 0

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

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

African
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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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FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640581422055977e-5
allele num: 60954
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

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

African
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Other
type: Population
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632279968660225e-5
allele num: 61264
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11172
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

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.128e1

DP
type: SiteQuality
SIO_000300: 1.325437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.246e0

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
all individuals: 526
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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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: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620587949308009e-5
allele num: 61706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.628e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

DP
type: SiteQuality
SIO_000300: 1.339183e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 2385
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.062706270627063e-4
allele num: 14544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62300
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
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SIO_000300: -1.114e0

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.361402e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 6.146e0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
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GenotypeQuality
all individuals: 565
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.071251035625518e-4
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.974e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 1.390183e6

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 4365
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variant carriers: 0

GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2439
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GenotypeQuality
all individuals: 6847
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.355157795572303e-4
allele num: 8492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.156266767667203e-5
allele num: 63366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 1.782e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.396881e6

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.046e0

QD
type: SiteQuality
SIO_000300: 1.136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 173
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GenotypeQuality
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GenotypeQuality
all individuals: 178
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GenotypeQuality
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GenotypeQuality
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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: 569
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.249531425715357e-4
allele num: 16006
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.984e0

QD
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SIO_000300: 1.097e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.48e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 1.407859e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 567
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variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.255e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.407591e6

VQSLOD
type: SiteQuality
SIO_000300: -8.29e-1

GenotypeDepth
all individuals: 4600
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 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: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.787e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

FS
type: SiteQuality
SIO_000300: 1.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 2.856e1

DP
type: SiteQuality
SIO_000300: 1.408931e6

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 569
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.354603249352484e-4
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 9.571999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: -6.487000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.895e0

DP
type: SiteQuality
SIO_000300: 1.408537e6

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 797
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 7020
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 8.25e1
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GenotypeQuality
all individuals: 2235
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.409069e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 36339
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 439
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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: 76
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GenotypeQuality
all individuals: 2209
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variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
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GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 444
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GenotypeQuality
all individuals: 7038
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GenotypeQuality
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GenotypeQuality
all individuals: 571
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.708393496139118e-5
allele num: 63716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.410297e6

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0