9-138392922-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392922
    reference: chr 9
allele count: 2
allele frequency: 2.371747740910277e-5
allele num: 84326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.118T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.122T>C
  hgvsp: ENSP00000360850.1:p.Leu41Pro
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.126T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.164T>C
  hgvsp: ENSP00000400082.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.122T>C
  hgvsp: ENSP00000241600.5:p.Leu41Pro
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.118T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.134T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+553A>G
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu41Pro
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-138392923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392923
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392923
    reference: chr 9
allele count: 5
allele frequency: 5.985730019633194e-5
allele num: 83532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.127T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.123T>C
  hgvsp: ENST00000241600.5:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.119T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.135T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.165T>C
  hgvsp: ENST00000453385.1:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.119T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.123T>C
  hgvsp: ENST00000371785.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+552A>G
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu41Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

9-138392929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392929
    reference: chr 9
allele count: 2
allele frequency: 2.541683611224075e-5
allele num: 78688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.129C>T
  hgvsp: ENST00000241600.5:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.141C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.133C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+546G>A
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.125C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.171C>T
  hgvsp: ENST00000453385.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.129C>T
  hgvsp: ENST00000371785.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.125C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser43Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-138392932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392932
    reference: chr 9
allele count: 2
allele frequency: 2.599766021058105e-5
allele num: 76930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.128G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.132G>A
  hgvsp: ENST00000241600.5:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.174G>A
  hgvsp: ENST00000453385.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.136G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+543C>T
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.128G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.132G>A
  hgvsp: ENST00000371785.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.144G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

9-138392936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392936
    reference: chr 9
allele count: 1
allele frequency: 1.34781788284767e-5
allele num: 74194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.132G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.178G>A
  hgvsp: ENSP00000400082.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.136G>A
  hgvsp: ENSP00000241600.5:p.Ala46Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.132G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.148G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.136G>A
  hgvsp: ENSP00000360850.1:p.Ala46Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.140G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+539C>T
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17253
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala46Thr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

9-138392939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392939
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392939
    reference: chr 9
allele count: 1
allele frequency: 1.386231944328925e-5
allele num: 72138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.139C>T
  hgvsp: ENSP00000360850.1:p.Leu47Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.139C>T
  hgvsp: ENSP00000241600.5:p.Leu47Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.143C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.151C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.135C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.181C>T
  hgvsp: ENSP00000400082.1:p.Leu61Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.135C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+536G>A
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu47Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

9-138392940-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392940
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392940
    reference: chr 9
allele count: 24
allele frequency: 3.36624775583483e-4
allele num: 71296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.140T>A
  hgvsp: ENSP00000241600.5:p.Leu47His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.136T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+535A>T
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.182T>A
  hgvsp: ENSP00000400082.1:p.Leu61His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.144T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.140T>A
  hgvsp: ENSP00000360850.1:p.Leu47His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.136T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.152T>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15847
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28315
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu47His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-138392947-CCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392947
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392945
    reference: chr 9
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.150_151delCG
  hgvsp: ENSP00000241600.5:p.Glu51ValfsTer14
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.146_147delCG
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.162_163delCG
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.154_155delCG
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.146_147delCG
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.150_151delCG
  hgvsp: ENSP00000360850.1:p.Glu51ValfsTer14
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.192_193delCG
  hgvsp: ENSP00000400082.1:p.Glu65ValfsTer14
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+526_-65+527delCG
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu51ValfsTer14
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: CCG
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

9-138392955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392955
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392955
    reference: chr 9
allele count: 124
allele frequency: 2.046542333718435e-3
allele num: 60590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.167C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+520G>A
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.151C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.155C>T
  hgvsp: ENSP00000360850.1:p.Ser52Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.155C>T
  hgvsp: ENSP00000241600.5:p.Ser52Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.151C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.197C>T
  hgvsp: ENSP00000400082.1:p.Ser66Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.159C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22172
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 1.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31127
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser52Leu
num of homozygotes: 2
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

9-138392955-CGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392955
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392952
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 60590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.163_165delGGA
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+517_-65+519delTCC
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.155_157delGGA
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.201_203delGGA
  hgvsp: ENSP00000400082.1:p.Glu67del
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.159_161delGGA
  hgvsp: ENSP00000241600.5:p.Glu53del
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.159_161delGGA
  hgvsp: ENSP00000360850.1:p.Glu53del
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.171_173delGGA
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.155_157delGGA
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: inframe deletion
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22172
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Glu53del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: CGGA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-138392964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392964
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392964
    reference: chr 9
allele count: 1
allele frequency: 1.808972503617945e-5
allele num: 55280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.160G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.164G>A
  hgvsp: ENSP00000360850.1:p.Ser55Asn
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.168G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.206G>A
  hgvsp: ENSP00000400082.1:p.Ser69Asn
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.160G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.176G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+511C>T
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.164G>A
  hgvsp: ENSP00000241600.5:p.Ser55Asn
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser55Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

9-138392969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392969
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392969
    reference: chr 9
allele count: 2
allele frequency: 3.996003996003996e-5
allele num: 50050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.165G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.169G>A
  hgvsp: ENSP00000241600.5:p.Asp57Asn
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.165G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.181G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.211G>A
  hgvsp: ENSP00000400082.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.173G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.169G>A
  hgvsp: ENSP00000360850.1:p.Asp57Asn
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+506C>T
  variant of: http://identifiers.org/hgnc/28435
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9800
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp57Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-138392976-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392976
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392976
    reference: chr 9
allele count: 2
allele frequency: 4.236031685517008e-5
allele num: 47214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.169+7C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+499G>T
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.181+7C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.172C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.169+7C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.165+7C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.211+7C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.173+7C>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
hgvs: c.169+7C>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

9-138392978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392978
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392978
    reference: chr 9
allele count: 9
allele frequency: 1.963093835885355e-4
allele num: 45846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.169+9G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.169+9G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+497C>T
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.173+9G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.174G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.181+9G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.165+9G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.211+9G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24028
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-138392991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138392991
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138392991
    reference: chr 9
allele count: 1
allele frequency: 2.555714577795952e-5
allele num: 39128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+484T>C
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.187A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.165+22A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.173+22A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.169+22A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.169+22A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.211+22A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.181+22A>G
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-138393016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393016
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393016
    reference: chr 9
allele count: 1
allele frequency: 4.418522446094026e-5
allele num: 22632
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.169+47G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.165+47G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.181+47G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.212G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160345
  ensembl protein: ENSP00000360856
  ensembl transcript: ENST00000371791
  gene symbol: C9orf116
  hgvsc: ENST00000371791.1:c.-65+459C>A
  variant of: http://identifiers.org/hgnc/28435
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.173+47G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.211+47G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.169+47G>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18489
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-138393646-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393646
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393645
    reference: chr 9
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-42delC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.269delC
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: GC
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-138393647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393647
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393647
    reference: chr 9
allele count: 7
allele frequency: 5.837516887102424e-5
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-43C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-43C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-43C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-43C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.268C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-43C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-43C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

9-138393651-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393651
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393651
    reference: chr 9
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-39C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-39C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-39C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.272C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-39C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-39C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-39C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-138393651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393651
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393651
    reference: chr 9
allele count: 14
allele frequency: 1.167600747264478e-4
allele num: 119904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-39C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-39C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.272C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-39C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-39C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-39C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-39C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

9-138393652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393652
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393652
    reference: chr 9
allele count: 4
allele frequency: 3.333333333333333e-5
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-38G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-38G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-38G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-38G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.273G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-38G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-38G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38979
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

9-138393659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393659
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393659
    reference: chr 9
allele count: 1
allele frequency: 8.330417687142833e-6
allele num: 120042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-31G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-31G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-31G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.280G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-31G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-31G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-31G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-138393661-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393661
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393661
    reference: chr 9
allele count: 2
allele frequency: 1.66602802259134e-5
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-29C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-29C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-29C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-29C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-29C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.282C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-29C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

9-138393664-A-AGCGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393664
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393669
    reference: chr 9
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: AGCGTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.288_292dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-23_174-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-23_212-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-23_369-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-23_182-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-23_170-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-23_170-19dupGTCGC
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

9-138393665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393665
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393665
    reference: chr 9
allele count: 6
allele frequency: 4.994755506717946e-5
allele num: 120126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-25G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-25G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-25G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-25G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.286G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-25G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-25G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38977
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

9-138393666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393666
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393666
    reference: chr 9
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-24C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.287C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

9-138393667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393667
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393667
    reference: chr 9
allele count: 2
allele frequency: 1.664115023630433e-5
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-23G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-23G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-23G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.288G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-23G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-23G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-23G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-138393671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393671
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393671
    reference: chr 9
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-19C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-19C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-19C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-19C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.292C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-19C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-19C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

9-138393674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393674
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393674
    reference: chr 9
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-16C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-16C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.295C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-16C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-16C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-16C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-16C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38979
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

9-138393678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393678
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393678
    reference: chr 9
allele count: 3
allele frequency: 2.506475060573147e-5
allele num: 119690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-12T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.299T>C
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

9-138393679-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393679
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393679
    reference: chr 9
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-11C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-11C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-11C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-11C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.300C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-11C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-11C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-138393683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393683
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393683
    reference: chr 9
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.304G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-7G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: c.170-7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-138393685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393685
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393685
    reference: chr 9
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-5C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-5C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-5C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.306C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-5C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-5C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-5C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: c.170-5C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-138393686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393686
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393686
    reference: chr 9
allele count: 5
allele frequency: 4.141061105497672e-5
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-4G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-4G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-4G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-4G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.307G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-4G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-4G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
hgvs: c.170-4G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-138393688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393688
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393688
    reference: chr 9
allele count: 5
allele frequency: 4.139552597155299e-5
allele num: 120786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.212-2A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.309A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.174-2A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.170-2A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.369-2A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.182-2A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.170-2A>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39037
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: c.170-2A>G
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-138393691-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393691
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393691
    reference: chr 9
allele count: 2
allele frequency: 1.655464688938185e-5
allele num: 120812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.370T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.213T>G
  hgvsp: ENSP00000400082.1:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.171T>G
  hgvsp: ENSP00000360850.1:p.Asp57Glu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.175T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.171T>G
  hgvsp: ENSP00000241600.5:p.Asp57Glu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.183T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.312T>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39039
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp57Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-138393697-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393697
    reference: chr 9
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.177C>G
  hgvsp: ENSP00000360850.1:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.318C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.189C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.376C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.177C>G
  hgvsp: ENSP00000241600.5:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.219C>G
  hgvsp: ENSP00000400082.1:p.Asn73Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.181C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn59Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

9-138393697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393697
    reference: chr 9
allele count: 3
allele frequency: 2.481635894381576e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.219C>T
  hgvsp: ENST00000453385.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.181C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.177C>T
  hgvsp: ENST00000371785.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.177C>T
  hgvsp: ENST00000241600.5:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.189C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.376C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.318C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39040
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn59Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-138393713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393713
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393713
    reference: chr 9
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.235G>A
  hgvsp: ENSP00000400082.1:p.Glu79Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.193G>A
  hgvsp: ENSP00000360850.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.193G>A
  hgvsp: ENSP00000241600.5:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.334G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.392G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.205G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.197G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu65Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

9-138393724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393724
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393724
    reference: chr 9
allele count: 4
allele frequency: 3.304528856798242e-5
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.246G>A
  hgvsp: ENST00000453385.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.345G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.403G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.208G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.216G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.204G>A
  hgvsp: ENST00000371785.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.204G>A
  hgvsp: ENST00000241600.5:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39037
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys68Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS

9-138393725-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393725
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393725
    reference: chr 9
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.247C>G
  hgvsp: ENSP00000400082.1:p.His83Asp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.205C>G
  hgvsp: ENSP00000241600.5:p.His69Asp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.205C>G
  hgvsp: ENSP00000360850.1:p.His69Asp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.217C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.346C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.209C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.404C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His69Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

9-138393725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393725
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393725
    reference: chr 9
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.346C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.205C>T
  hgvsp: ENSP00000241600.5:p.His69Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.217C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.209C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.205C>T
  hgvsp: ENSP00000360850.1:p.His69Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.404C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.247C>T
  hgvsp: ENSP00000400082.1:p.His83Tyr
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His69Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-138393729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393729
    reference: chr 9
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.213C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.209C>A
  hgvsp: ENSP00000241600.5:p.Ser70Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.221C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.209C>A
  hgvsp: ENSP00000360850.1:p.Ser70Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.350C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.251C>A
  hgvsp: ENSP00000400082.1:p.Ser84Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.408C>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser70Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

9-138393729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393729
    reference: chr 9
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.350C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.251C>T
  hgvsp: ENSP00000400082.1:p.Ser84Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.209C>T
  hgvsp: ENSP00000241600.5:p.Ser70Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.209C>T
  hgvsp: ENSP00000360850.1:p.Ser70Phe
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.213C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.408C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.221C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser70Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

9-138393730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393730
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393730
    reference: chr 9
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.351T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.409T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.214T>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.210T>C
  hgvsp: ENST00000371785.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.210T>C
  hgvsp: ENST00000241600.5:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.252T>C
  hgvsp: ENST00000453385.1:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.222T>C
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser70Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

9-138393731-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393731
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393731
    reference: chr 9
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.211G>C
  hgvsp: ENSP00000241600.5:p.Asp71His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.215G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.211G>C
  hgvsp: ENSP00000360850.1:p.Asp71His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.352G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.223G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.253G>C
  hgvsp: ENSP00000400082.1:p.Asp85His
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.410G>C
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp71His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-138393733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393733
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393733
    reference: chr 9
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.217C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.354C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.213C>T
  hgvsp: ENST00000371785.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.225C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.213C>T
  hgvsp: ENST00000241600.5:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.412C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.255C>T
  hgvsp: ENST00000453385.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp71Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

9-138393736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393736
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393736
    reference: chr 9
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.220C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.258C>T
  hgvsp: ENST00000453385.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.216C>T
  hgvsp: ENST00000241600.5:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.357C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.415C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.216C>T
  hgvsp: ENST00000371785.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.228C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe72Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-138393746-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393746
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393746
    reference: chr 9
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.367A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.238A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.226A>C
  hgvsp: ENSP00000241600.5:p.Lys76Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.230A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.268A>C
  hgvsp: ENSP00000400082.1:p.Lys90Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.425A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.226A>C
  hgvsp: ENSP00000360850.1:p.Lys76Gln
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys76Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-138393750-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393750
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393750
    reference: chr 9
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.242A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.234A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.429A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.230A>T
  hgvsp: ENSP00000241600.5:p.Glu77Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.230A>T
  hgvsp: ENSP00000360850.1:p.Glu77Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.272A>T
  hgvsp: ENSP00000400082.1:p.Glu91Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.371A>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu77Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

9-138393756-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393756
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393756
    reference: chr 9
allele count: 23
allele frequency: 1.89925681255161e-4
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.435T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.278T>A
  hgvsp: ENSP00000400082.1:p.Phe93Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.240T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.236T>A
  hgvsp: ENSP00000241600.5:p.Phe79Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.236T>A
  hgvsp: ENSP00000360850.1:p.Phe79Tyr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.248T>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.377T>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe79Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

9-138393760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393760
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393760
    reference: chr 9
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.244C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.282C>T
  hgvsp: ENST00000453385.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.240C>T
  hgvsp: ENST00000371785.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.381C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.439C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.240C>T
  hgvsp: ENST00000241600.5:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.252C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser80Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-138393761-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393761
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393761
    reference: chr 9
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.241G>T
  hgvsp: ENSP00000241600.5:p.Val81Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.241G>T
  hgvsp: ENSP00000360850.1:p.Val81Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.382G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.245G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.440G>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.283G>T
  hgvsp: ENSP00000400082.1:p.Val95Leu
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.253G>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val81Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-138393762-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393762
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393762
    reference: chr 9
allele count: 3
allele frequency: 2.477741621103751e-5
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.242T>G
  hgvsp: ENSP00000241600.5:p.Val81Gly
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.242T>G
  hgvsp: ENSP00000360850.1:p.Val81Gly
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.246T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.284T>G
  hgvsp: ENSP00000400082.1:p.Val95Gly
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.383T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.441T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.254T>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val81Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

9-138393768-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393768
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393768
    reference: chr 9
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.252G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.260G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.248G>C
  hgvsp: ENSP00000241600.5:p.Ser83Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.290G>C
  hgvsp: ENSP00000400082.1:p.Ser97Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.447G>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.248G>C
  hgvsp: ENSP00000360850.1:p.Ser83Thr
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.389G>C
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser83Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

9-138393769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393769
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393769
    reference: chr 9
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.448C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.261C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.249C>T
  hgvsp: ENST00000241600.5:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.253C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.249C>T
  hgvsp: ENST00000371785.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.291C>T
  hgvsp: ENST00000453385.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.390C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser83Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

9-138393775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393775
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393775
    reference: chr 9
allele count: 2
allele frequency: 1.652073352056831e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.454C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.255C>T
  hgvsp: ENST00000241600.5:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.297C>T
  hgvsp: ENST00000453385.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.255C>T
  hgvsp: ENST00000371785.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.396C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.259C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe85Phe
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-138393780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393780
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393780
    reference: chr 9
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.302C>T
  hgvsp: ENSP00000400082.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.260C>T
  hgvsp: ENSP00000360850.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.260C>T
  hgvsp: ENSP00000241600.5:p.Ala87Val
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.459C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.401C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.264C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.272C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala87Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

9-138393783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393783
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393783
    reference: chr 9
allele count: 4
allele frequency: 3.305839765946544e-5
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.275G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.267G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.305G>A
  hgvsp: ENSP00000400082.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.404G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.263G>A
  hgvsp: ENSP00000241600.5:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.462G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.263G>A
  hgvsp: ENSP00000360850.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39027
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg88Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

9-138393785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393785
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393785
    reference: chr 9
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.265G>A
  hgvsp: ENSP00000241600.5:p.Val89Ile
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.406G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.307G>A
  hgvsp: ENSP00000400082.1:p.Val103Ile
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.265G>A
  hgvsp: ENSP00000360850.1:p.Val89Ile
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.277G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.464G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.269G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39026
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val89Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-138393812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393812
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393812
    reference: chr 9
allele count: 2
allele frequency: 1.655245472903632e-5
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.334C>T
  hgvsp: ENSP00000400082.1:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.292C>T
  hgvsp: ENSP00000360850.1:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.491C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.304C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.433C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.292C>T
  hgvsp: ENSP00000241600.5:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.296C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg98Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-138393813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393813
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393813
    reference: chr 9
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.305G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.335G>A
  hgvsp: ENSP00000400082.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.293G>A
  hgvsp: ENSP00000241600.5:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.492G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.434G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.297G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.293G>A
  hgvsp: ENSP00000360850.1:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39024
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg98Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

9-138393826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393826
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393826
    reference: chr 9
allele count: 9
allele frequency: 7.459470211848954e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+7G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+7G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: c.299+7G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

9-138393827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393827
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393827
    reference: chr 9
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+8A>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+8A>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39021
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
hgvs: c.299+8A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/9-138393830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393830
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393830
    reference: chr 9
allele count: 3
allele frequency: 2.487892257679294e-5
allele num: 120584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+11C>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+11C>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39020
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-138393832-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393832
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393832
    reference: chr 9
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+13C>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+13C>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/9-138393835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393835
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393835
    reference: chr 9
allele count: 6
allele frequency: 4.979087831109341e-5
allele num: 120504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+16A>C
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+16A>C
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

9-138393835-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393835
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393835
    reference: chr 9
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+16A>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+16A>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39014
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

9-138393838-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393838
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393838
    reference: chr 9
allele count: 2
allele frequency: 1.660329741486659e-5
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+19T>G
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+19T>G
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

9-138393842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393842
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393842
    reference: chr 9
allele count: 2
allele frequency: 1.661488361274029e-5
allele num: 120374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+23C>T
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+23C>T
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

9-138393845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393845
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393845
    reference: chr 9
allele count: 3
allele frequency: 2.493848507016027e-5
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+26G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+26G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-138393846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138393846
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 138393846
    reference: chr 9
allele count: 2
allele frequency: 1.662482751741451e-5
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000462948
  gene symbol: MRPS2
  hgvsc: ENST00000462948.1:n.498+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000485333
  gene symbol: MRPS2
  hgvsc: ENST00000485333.1:n.303+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000472852
  gene symbol: MRPS2
  hgvsc: ENST00000472852.1:n.440+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000400082
  ensembl transcript: ENST00000453385
  gene symbol: MRPS2
  hgvsc: ENST00000453385.1:c.341+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000241600
  ensembl transcript: ENST00000241600
  gene symbol: MRPS2
  hgvsc: ENST00000241600.5:c.299+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl transcript: ENST00000488610
  gene symbol: MRPS2
  hgvsc: ENST00000488610.1:n.311+27G>A
  variant of: http://identifiers.org/hgnc/14495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122140
  ensembl protein: ENSP00000360850
  ensembl transcript: ENST00000371785
  gene symbol: MRPS2
  hgvsc: ENST00000371785.1:c.299+27G>A
  variant of: http://identifiers.org/hgnc/14495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 630
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21508
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 968
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.42600679281902e-4
allele num: 8244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45980
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.792e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.64563e5

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 8.319467554076539e-4
allele num: 6010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

DP
type: SiteQuality
SIO_000300: 9.53337e5

FS
type: SiteQuality
SIO_000300: 4.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.329156379559324e-5
allele num: 42934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.481669908723627e-5
allele num: 13366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.264e-1

DP
type: SiteQuality
SIO_000300: 8.91819e5

FS
type: SiteQuality
SIO_000300: 8.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1270
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.771447657219201e-5
allele num: 41916
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.32e0

FS
type: SiteQuality
SIO_000300: 5.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 8.71053e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.684e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.45475705557172e-4
allele num: 6874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: -4.373e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 8.40239e5

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 516
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GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.544917799155087e-5
allele num: 39294
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 5.411e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 8.19186e5

QD
type: SiteQuality
SIO_000300: 1.04e1

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
all individuals: 29
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.529051987767584e-4
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 4.379862936054001e-4
allele num: 38814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.197802197802198e-3
allele num: 2730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 8.11145e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-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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bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.759381898454746e-5
allele num: 36240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 5.805e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 7.58479e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 110

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.046180090166931e-5
allele num: 32828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.920122887864823e-4
allele num: 5208
num of homozygotes: 0

East Asian
type: Population
allele count: 112
allele frequency: 2.714493456131847e-2
allele num: 4126
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 2.347417840375587e-3
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 7.759958613554061e-4
allele num: 11598
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

FS
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

Latino
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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: 11030
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.344929087503345e-5
allele num: 29896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 6.47072e5

FS
type: SiteQuality
SIO_000300: 2.682e0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.562e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.426110203475419e-5
allele num: 26932
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.05736e5

QD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

FS
type: SiteQuality
SIO_000300: 1.495e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25372
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.982160555004955e-4
allele num: 10090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 4.265e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.76561e5

VQSLOD
type: SiteQuality
SIO_000300: -1.819e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

QD
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-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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bin: 1.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.067355405515334e-5
allele num: 24586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

African
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allele count: 8
allele frequency: 2.538071065989848e-3
allele num: 3152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 4.804e0

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 5.64098e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 4.058441558441559e-4
allele num: 2464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

DP
type: SiteQuality
SIO_000300: 5.03524e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 5.87e0

VQSLOD
type: SiteQuality
SIO_000300: -2.954e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1300
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.680491551459293e-4
allele num: 1302
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.72e-2

DP
type: SiteQuality
SIO_000300: 3.9832e5

QD
type: SiteQuality
SIO_000300: 1.715e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Finnish)
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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: 16122
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519018106695832e-5
allele num: 65832
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.01e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.426e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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South Asian
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allele frequency: 4.351069119840875e-4
allele num: 16088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

East Asian
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allele count: 13
allele frequency: 1.507770818835537e-3
allele num: 8622
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.752e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 2.88579e6

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 4
allele frequency: 2.476166893648632e-4
allele num: 16154
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 2.887554e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 3.203e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 6.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.042e0

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.891568e6

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
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variant carriers: 0

GenotypeQuality
all individuals: 6826
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.940240589833139e-4
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 4.155e0

QD
type: SiteQuality
SIO_000300: 1.551e1

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.893381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.295e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

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

GenotypeQuality
all individuals: 2255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38978
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.214e1

FS
type: SiteQuality
SIO_000300: 2.596e0

MQRankSum
type: SiteQuality
SIO_000300: -6.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 7.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 2.897274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
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: 16242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

DP
type: SiteQuality
SIO_000300: 2.897918e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
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variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
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GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.123e1

VQSLOD
type: SiteQuality
SIO_000300: -2.572e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.899206e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
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GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38978
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
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: 2
allele frequency: 3.034348828741352e-5
allele num: 65912
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.023e-1

FS
type: SiteQuality
SIO_000300: 9.890000000000001e0

DP
type: SiteQuality
SIO_000300: 2.900151e6

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
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: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 7.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

DP
type: SiteQuality
SIO_000300: 2.904563e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -1.127e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.131e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e0

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 6.934e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 2.906711e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
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GenotypeQuality
all individuals: 38584
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variant carriers: 1

GenotypeQuality
all individuals: 8055
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GenotypeQuality
all individuals: 1370
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 1254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52452968259292e-5
allele num: 65594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.957713390759593e-4
allele num: 10216
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.545e2

DP
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SIO_000300: 2.922215e6

InbreedingCoeff
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SIO_000300: -1.8e-3

QD
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SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.019e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.227e0

FS
type: SiteQuality
SIO_000300: 2.73873e2

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.349e0

DP
type: SiteQuality
SIO_000300: 2.916016e6

MQ
type: SiteQuality
SIO_000300: 5.859e1

MQRankSum
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BaseQRankSum
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SIO_000300: -2.27e-1

QD
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VQSLOD
type: SiteQuality
SIO_000300: -2.496e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.765e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 2.917869e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
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SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 2.918968e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.899671370578001e-4
allele num: 10346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 2.919533e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-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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variant carriers: 0

Latino
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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: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.019323671497584e-5
allele num: 66240
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 2.920002e6

FS
type: SiteQuality
SIO_000300: 1.841e0

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.920309e6

ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
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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
allele num: 8644
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

Other
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South Asian
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allele num: 16490
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East Asian
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African
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allele frequency: 0.0e0
allele num: 10360
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European (Finnish)
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
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Other
type: Population
allele count: 0
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allele num: 904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.02e-1

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

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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)
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allele count: 3
allele frequency: 4.515895953757225e-5
allele num: 66432
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
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SIO_000300: -2.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
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SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.92369e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

FS
type: SiteQuality
SIO_000300: 3.126e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
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DP
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SIO_000300: 2.92367e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

FS
type: SiteQuality
SIO_000300: 3.792e0

VQSLOD
type: SiteQuality
SIO_000300: -1.79e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.79e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
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SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 2.92367e6

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

FS
type: SiteQuality
SIO_000300: 3.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 3.617e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.923653e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e0

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 3.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.923653e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 3.945e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.923663e6

GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.202e1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.923651e6

GenotypeQuality
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variant carriers: 0

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

Latino
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num of homozygotes: 0

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

European (Finnish)
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Other
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East Asian
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South Asian
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African
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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MQRankSum
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FS
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ClippingRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele num: 6614
num of homozygotes: 0

Other
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66466
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Latino
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African
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FS
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
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SIO_000300: -5.47e-1

ReadPosRankSum
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SIO_000300: -1.91e-1

QD
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SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 2.923861e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

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

African
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allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

Latino
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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
allele num: 8644
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.923971e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.756e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23

East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.353668441476401e-4
allele num: 66486
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African
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allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

Latino
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allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
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FS
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QD
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MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
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SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66462
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.923095e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.513585893539554e-5
allele num: 66466
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66458
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Latino
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East Asian
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Other
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

Other
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South Asian
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allele num: 16510
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African
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num of homozygotes: 0

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

East Asian
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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allele frequency: 9.645061728395061e-5
allele num: 10368
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European (Finnish)
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Latino
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num of homozygotes: 0

Other
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10366
num of homozygotes: 0

East Asian
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allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517664066500015e-5
allele num: 66406
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

DP
type: SiteQuality
SIO_000300: 2.92108e6

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.298e0

GenotypeQuality
all individuals: 1299
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8600
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.485e0

DP
type: SiteQuality
SIO_000300: 2.920798e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: -4.573e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.265e0

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39026
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 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: 2
allele frequency: 3.017956843217142e-5
allele num: 66270
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

DP
type: SiteQuality
SIO_000300: 2.91632e6

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 5.797e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8198
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.501e1

DP
type: SiteQuality
SIO_000300: 2.915484e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 8.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7950
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variant carriers: 0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 39024
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1391
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: 10308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.058169065183214e-4
allele num: 66152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.911282e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.981e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 7880
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variant carriers: 0

GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2550
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.909934e6

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1392
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variant carriers: 0

GenotypeQuality
all individuals: 7732
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variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.537616843633724e-5
allele num: 66114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.16e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.908285e6

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.087e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 1998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 391
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GenotypeQuality
all individuals: 2228
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variant carriers: 0

GenotypeQuality
all individuals: 7243
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variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513958699206686e-5
allele num: 66052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.354e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 2.901954e6

FS
type: SiteQuality
SIO_000300: 2.736e0

MQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.900956e6

FS
type: SiteQuality
SIO_000300: 2.115e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
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GenotypeQuality
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GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
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: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 2.900956e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2228
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GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39010
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.945903872348706e-4
allele num: 10278
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.533e0

DP
type: SiteQuality
SIO_000300: 2.897647e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.321e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 39010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.892556e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39001
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 2.499e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

DP
type: SiteQuality
SIO_000300: 2.888834e6