16-836888-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836888
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836888
    reference: chr 16
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.450T>A
  hgvsp: ENST00000007264.2:c.450T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.347T>A
  hgvsp: ENSP00000457722.1:p.Phe116Tyr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.260T>A
  hgvsp: ENST00000562070.1:c.260T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.72T>A
  hgvsp: ENST00000569601.1:c.72T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.63T>A
  hgvsp: ENST00000565377.1:c.63T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.459T>A
  hgvsp: ENST00000563560.1:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.63T>A
  hgvsp: ENST00000567114.1:c.63T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*113T>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.450T>A
  hgvsp: ENST00000561734.1:c.450T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*34T>A
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46966
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe116Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-836893-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836893
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836893
    reference: chr 16
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.58G>C
  hgvsp: ENSP00000455862.1:p.Val20Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.255G>C
  hgvsp: ENSP00000458059.1:p.Val86Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.342G>C
  hgvsp: ENST00000565809.1:c.342G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.58G>C
  hgvsp: ENSP00000456692.1:p.Val20Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*108G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.445G>C
  hgvsp: ENSP00000007264.2:p.Val149Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.67G>C
  hgvsp: ENSP00000454616.1:p.Val23Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.454G>C
  hgvsp: ENSP00000456231.1:p.Val152Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.445G>C
  hgvsp: ENSP00000455026.1:p.Val149Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val149Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS

16-836893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836893
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836893
    reference: chr 16
allele count: 6
allele frequency: 4.986785019697801e-5
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.342G>A
  hgvsp: ENST00000565809.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*108G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.58G>A
  hgvsp: ENSP00000456692.1:p.Val20Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.58G>A
  hgvsp: ENSP00000455862.1:p.Val20Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.454G>A
  hgvsp: ENSP00000456231.1:p.Val152Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.445G>A
  hgvsp: ENSP00000455026.1:p.Val149Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.255G>A
  hgvsp: ENSP00000458059.1:p.Val86Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.445G>A
  hgvsp: ENSP00000007264.2:p.Val149Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.67G>A
  hgvsp: ENSP00000454616.1:p.Val23Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val149Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-836894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836894
    reference: chr 16
allele count: 7
allele frequency: 5.817915856314101e-5
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.254C>T
  hgvsp: ENST00000562070.1:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.66C>T
  hgvsp: ENST00000569601.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.57C>T
  hgvsp: ENST00000567114.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.341C>T
  hgvsp: ENSP00000457722.1:p.Ser114Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.444C>T
  hgvsp: ENST00000007264.2:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.444C>T
  hgvsp: ENST00000561734.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.453C>T
  hgvsp: ENST00000563560.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.57C>T
  hgvsp: ENST00000565377.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser114Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-836894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836894
    reference: chr 16
allele count: 2
allele frequency: 1.6622616732326e-5
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.254C>G
  hgvsp: ENST00000562070.1:c.254C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.341C>G
  hgvsp: ENSP00000457722.1:p.Ser114Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.57C>G
  hgvsp: ENST00000567114.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.453C>G
  hgvsp: ENST00000563560.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.444C>G
  hgvsp: ENST00000561734.1:c.444C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*107C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.66C>G
  hgvsp: ENST00000569601.1:c.66C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.57C>G
  hgvsp: ENST00000565377.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.444C>G
  hgvsp: ENST00000007264.2:c.444C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*28C>G
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser114Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

16-836896-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836896
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836896
    reference: chr 16
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.55C>G
  hgvsp: ENSP00000455862.1:p.Leu19Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.64C>G
  hgvsp: ENSP00000454616.1:p.Leu22Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.451C>G
  hgvsp: ENSP00000456231.1:p.Leu151Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.55C>G
  hgvsp: ENSP00000456692.1:p.Leu19Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.339C>G
  hgvsp: ENSP00000457722.1:p.Ile113Met
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.442C>G
  hgvsp: ENSP00000455026.1:p.Leu148Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.252C>G
  hgvsp: ENSP00000458059.1:p.Leu85Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*105C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*26C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.442C>G
  hgvsp: ENSP00000007264.2:p.Leu148Val
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu148Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-836900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836900
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836900
    reference: chr 16
allele count: 2
allele frequency: 1.662399840409615e-5
allele num: 120308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.60A>G
  hgvsp: ENST00000569601.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.51A>G
  hgvsp: ENST00000565377.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.248A>G
  hgvsp: ENST00000562070.1:c.248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.438A>G
  hgvsp: ENST00000007264.2:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.447A>G
  hgvsp: ENST00000563560.1:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.335A>G
  hgvsp: ENSP00000457722.1:p.Gln112Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.51A>G
  hgvsp: ENST00000567114.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.438A>G
  hgvsp: ENST00000561734.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln112Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-836901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836901
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836901
    reference: chr 16
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.437C>A
  hgvsp: ENSP00000007264.2:p.Thr146Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*100C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*21C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.247C>A
  hgvsp: ENSP00000458059.1:p.Thr83Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.50C>A
  hgvsp: ENSP00000456692.1:p.Thr17Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.50C>A
  hgvsp: ENSP00000455862.1:p.Thr17Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.334C>A
  hgvsp: ENSP00000457722.1:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.446C>A
  hgvsp: ENSP00000456231.1:p.Thr149Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.437C>A
  hgvsp: ENSP00000455026.1:p.Thr146Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.59C>A
  hgvsp: ENSP00000454616.1:p.Thr20Lys
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr146Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

16-836903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836903
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836903
    reference: chr 16
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.332C>T
  hgvsp: ENSP00000457722.1:p.Ser111Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.245C>T
  hgvsp: ENST00000562070.1:c.245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.444C>T
  hgvsp: ENST00000563560.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.57C>T
  hgvsp: ENST00000569601.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.435C>T
  hgvsp: ENST00000561734.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.435C>T
  hgvsp: ENST00000007264.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.48C>T
  hgvsp: ENST00000567114.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.48C>T
  hgvsp: ENST00000565377.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser111Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

16-836905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836905
    reference: chr 16
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.433C>T
  hgvsp: ENSP00000007264.2:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.55C>T
  hgvsp: ENSP00000454616.1:p.Leu19Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.330C>T
  hgvsp: ENST00000565809.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.442C>T
  hgvsp: ENSP00000456231.1:p.Leu148Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.46C>T
  hgvsp: ENSP00000456692.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.433C>T
  hgvsp: ENSP00000455026.1:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.243C>T
  hgvsp: ENSP00000458059.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.46C>T
  hgvsp: ENSP00000455862.1:p.Leu16Phe
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu145Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-836905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836905
    reference: chr 16
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.433C>G
  hgvsp: ENSP00000455026.1:p.Leu145Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.433C>G
  hgvsp: ENSP00000007264.2:p.Leu145Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.46C>G
  hgvsp: ENSP00000456692.1:p.Leu16Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*96C>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.243C>G
  hgvsp: ENSP00000458059.1:p.Leu82Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.330C>G
  hgvsp: ENST00000565809.1:c.330C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.55C>G
  hgvsp: ENSP00000454616.1:p.Leu19Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.46C>G
  hgvsp: ENSP00000455862.1:p.Leu16Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.442C>G
  hgvsp: ENSP00000456231.1:p.Leu148Val
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu145Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

16-836906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836906
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836906
    reference: chr 16
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.441C>T
  hgvsp: ENST00000563560.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.432C>T
  hgvsp: ENST00000007264.2:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.432C>T
  hgvsp: ENST00000561734.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.54C>T
  hgvsp: ENST00000569601.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.45C>T
  hgvsp: ENST00000565377.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.329C>T
  hgvsp: ENSP00000457722.1:p.Ala110Val
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.242C>T
  hgvsp: ENST00000562070.1:c.242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.45C>T
  hgvsp: ENST00000567114.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala110Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-836909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836909
    reference: chr 16
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.326A>G
  hgvsp: ENSP00000457722.1:p.Gln109Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.51A>G
  hgvsp: ENST00000569601.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.429A>G
  hgvsp: ENST00000561734.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*92A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.239A>G
  hgvsp: ENST00000562070.1:c.239A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.438A>G
  hgvsp: ENST00000563560.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.42A>G
  hgvsp: ENST00000565377.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.429A>G
  hgvsp: ENST00000007264.2:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.42A>G
  hgvsp: ENST00000567114.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln109Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-836910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836910
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836910
    reference: chr 16
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.238C>T
  hgvsp: ENSP00000458059.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.41C>T
  hgvsp: ENSP00000456692.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.428C>T
  hgvsp: ENSP00000455026.1:p.Pro143Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.428C>T
  hgvsp: ENSP00000007264.2:p.Pro143Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.437C>T
  hgvsp: ENSP00000456231.1:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.325C>T
  hgvsp: ENSP00000457722.1:p.Gln109Ter
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.50C>T
  hgvsp: ENSP00000454616.1:p.Pro17Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.41C>T
  hgvsp: ENSP00000455862.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln109Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-836913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836913
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836913
    reference: chr 16
allele count: 12
allele frequency: 9.981866276264786e-5
allele num: 120218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.425A>G
  hgvsp: ENSP00000455026.1:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.425A>G
  hgvsp: ENSP00000007264.2:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.38A>G
  hgvsp: ENSP00000455862.1:p.Lys13Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.322A>G
  hgvsp: ENSP00000457722.1:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.235A>G
  hgvsp: ENSP00000458059.1:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.434A>G
  hgvsp: ENSP00000456231.1:p.Lys145Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.38A>G
  hgvsp: ENSP00000456692.1:p.Lys13Arg
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*88A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.47A>G
  hgvsp: ENSP00000454616.1:p.Lys16Arg
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys142Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

16-836914-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836914
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836914
    reference: chr 16
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*8A>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.37A>C
  hgvsp: ENSP00000456692.1:p.Lys13Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.37A>C
  hgvsp: ENSP00000455862.1:p.Lys13Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.424A>C
  hgvsp: ENSP00000455026.1:p.Lys142Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.424A>C
  hgvsp: ENSP00000007264.2:p.Lys142Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.46A>C
  hgvsp: ENSP00000454616.1:p.Lys16Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.321A>C
  hgvsp: ENSP00000457722.1:p.Gln107His
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.433A>C
  hgvsp: ENSP00000456231.1:p.Lys145Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.234A>C
  hgvsp: ENSP00000458059.1:p.Lys79Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*87A>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys142Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-836918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836918
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836918
    reference: chr 16
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.33C>T
  hgvsp: ENST00000565377.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.317C>T
  hgvsp: ENSP00000457722.1:p.Thr106Ile
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.420C>T
  hgvsp: ENST00000007264.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.429C>T
  hgvsp: ENST00000563560.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.230C>T
  hgvsp: ENST00000562070.1:c.230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.420C>T
  hgvsp: ENST00000561734.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.42C>T
  hgvsp: ENST00000569601.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.33C>T
  hgvsp: ENST00000567114.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6257
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr106Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

16-836922-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836922
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836922
    reference: chr 16
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.226A>G
  hgvsp: ENSP00000458059.1:p.Glu76Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.416A>G
  hgvsp: ENSP00000455026.1:p.Glu139Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.313A>G
  hgvsp: ENSP00000457722.1:p.Arg105Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.29A>G
  hgvsp: ENSP00000455862.1:p.Glu10Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.426A>G
  hgvsp: ENSP00000457527.1:p.Ter142TrpextTer89
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.416A>G
  hgvsp: ENSP00000007264.2:p.Glu139Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.425A>G
  hgvsp: ENSP00000456231.1:p.Glu142Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.29A>G
  hgvsp: ENSP00000456692.1:p.Glu10Gly
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*79A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.38A>G
  hgvsp: ENSP00000454616.1:p.Glu13Gly
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter142TrpextTer89
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS

16-836928-C-CCTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836928
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836933
    reference: chr 16
allele count: 2
allele frequency: 1.667917604870319e-5
allele num: 119910
alternate allele: CCTGGG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-5_410-1dupCCCAG
  hgvsp: ENSP00000007264.2:p.Gly137AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-5_410-1dupCCCAG
  hgvsp: ENSP00000455026.1:p.Gly137AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-5_420-1dupCCCAG
  hgvsp: ENSP00000457527.1:p.Leu141ProfsTer?
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-5_23-1dupCCCAG
  hgvsp: ENSP00000456692.1:p.Gly8AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-5_220-1dupCCCAG
  hgvsp: ENSP00000458059.1:p.Gly74AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-5_307-1dupCCCAG
  hgvsp: ENSP00000457722.1:p.Val103ProfsTer4
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-5_419-1dupCCCAG
  hgvsp: ENSP00000456231.1:p.Gly140AlafsTer?
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-5_*73-1dupCCCAG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-5_32-1dupCCCAG
  hgvsp: ENSP00000454616.1:p.Gly11AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-5_23-1dupCCCAG
  hgvsp: ENSP00000455862.1:p.Gly8AlafsTer32
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly137AlafsTer32
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-836930-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836930
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836929
    reference: chr 16
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-3delC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-3delC
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: c.410-3delC
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: TG
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-836930-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836930
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836928
    reference: chr 16
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-4_23-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-4_220-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-4_420-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-4_32-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-4_410-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-4_410-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-4_307-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-4_419-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-4_23-3delCC
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-4_*73-3delCC
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
hgvs: c.410-4_410-3delCC
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: TGG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

16-836931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836931
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836931
    reference: chr 16
allele count: 1
allele frequency: 8.345712807330875e-6
allele num: 119822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-3C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-3C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.75e1
  variant carriers: 1
hgvs: c.410-3C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-836931-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836931
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836931
    reference: chr 16
allele count: 1
allele frequency: 8.345712807330875e-6
allele num: 119822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-3C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-3C>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
hgvs: c.410-3C>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-836935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836935
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836935
    reference: chr 16
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-7G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-7G>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
hgvs: c.410-7G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

16-836935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836935
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836935
    reference: chr 16
allele count: 3
allele frequency: 2.506516944054542e-5
allele num: 119688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-7G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-7G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45620
  bin: 6.25e1
  variant carriers: 0
hgvs: c.410-7G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-836936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836936
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836936
    reference: chr 16
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-8C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-8C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
hgvs: c.410-8C>T
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-836939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836939
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836939
    reference: chr 16
allele count: 1
allele frequency: 8.36344172353807e-6
allele num: 119568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-11C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-11C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

16-836943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836943
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836943
    reference: chr 16
allele count: 1
allele frequency: 8.373386029842748e-6
allele num: 119426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-15C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-15C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-836946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836946
    reference: chr 16
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-18C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-18C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

16-836947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836947
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836947
    reference: chr 16
allele count: 2
allele frequency: 1.676136839811602e-5
allele num: 119322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-19C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-19C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

16-836949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836949
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836949
    reference: chr 16
allele count: 15
allele frequency: 1.258515957982347e-4
allele num: 119188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-21C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-21C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

16-836954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836954
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836954
    reference: chr 16
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-26C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

16-836960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836960
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836960
    reference: chr 16
allele count: 2
allele frequency: 1.685289111347052e-5
allele num: 118674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-32C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-32C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-836961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836961
    reference: chr 16
allele count: 14
allele frequency: 1.181594139293069e-4
allele num: 118484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-33C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-33C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35266
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-836970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836970
    reference: chr 16
allele count: 2
allele frequency: 1.699264218593349e-5
allele num: 117698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-42G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-42G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

16-836971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836971
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836971
    reference: chr 16
allele count: 5
allele frequency: 4.250399537556531e-5
allele num: 117636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.220-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.23-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.420-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.32-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.23-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.419-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.410-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*73-43C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.410-43C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

16-836973-GGCCCAGGCCCACCCCAACGCACGATGCCCGCCCGGTGGGTCCCTGCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 836973
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836925
    reference: chr 16
allele count: 2
allele frequency: 1.70047783427143e-5
allele num: 117614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: GGCCCAGGCCCACCCCAACGCACGATGCCCGCCCGGTGGGTCCCTGCCT
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-837020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837020
    reference: chr 16
allele count: 2
allele frequency: 2.267830819820841e-5
allele num: 88190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+48G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+48G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-92G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+57G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+57G>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-837020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837020
    reference: chr 16
allele count: 1
allele frequency: 1.133915409910421e-5
allele num: 88190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+48G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+48G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-92G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+57G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+57G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

16-837023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837023
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 86748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-95G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+45G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+54G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+45G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-837026-AGGCCCACCCCAACCCACGATGCCCGCCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 836997
    reference: chr 16
allele count: 1
allele frequency: 1.156925355176084e-5
allele num: 86436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: AGGCCCACCCCAACCCACGATGCCCGCCCG
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

16-837029-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837029
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837029
    reference: chr 16
allele count: 1
allele frequency: 1.206680181484699e-5
allele num: 82872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+39G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-101G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+39G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+48G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+48G>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

16-837040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837040
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837040
    reference: chr 16
allele count: 1
allele frequency: 1.23805279057099e-5
allele num: 80772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+28G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-112G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+37G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+28G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

16-837043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837043
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837043
    reference: chr 16
allele count: 22
allele frequency: 2.758343990571479e-4
allele num: 79758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+25G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+25G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+34G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-115G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+34G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20230
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-837044-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837044
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837044
    reference: chr 16
allele count: 1
allele frequency: 1.249032000199845e-5
allele num: 80062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+24C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+24C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-116C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+33C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+33C>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-837046-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837046
    reference: chr 16
allele count: 2
allele frequency: 2.514774299006664e-5
allele num: 79530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+22A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+22A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-118A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+31A>G
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+31A>G
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/16-837049-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837049
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837049
    reference: chr 16
allele count: 1
allele frequency: 1.263391954720032e-5
allele num: 79152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-121G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+19G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+28G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+19G>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20977
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-837050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837050
    reference: chr 16
allele count: 2
allele frequency: 2.541231480775584e-5
allele num: 78702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+18G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-122G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+18G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+27G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+27G>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-837050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837050
    reference: chr 16
allele count: 4
allele frequency: 5.082462961551168e-5
allele num: 78702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+18G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+18G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-122G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+27G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+27G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-837051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837051
    reference: chr 16
allele count: 3
allele frequency: 3.831515492094307e-5
allele num: 78298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+17C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-123C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+26C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+17C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+26C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-837051-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837052
    reference: chr 16
allele count: 5
allele frequency: 6.385859153490511e-5
allele num: 78298
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+16dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-124dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+25dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+16dupG
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+25dupG
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

16-837054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837054
    reference: chr 16
allele count: 7
allele frequency: 8.908345847438214e-5
allele num: 78578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-126G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+14G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+14G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+23G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+23G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16480
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

16-837055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837055
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837055
    reference: chr 16
allele count: 2928
allele frequency: 3.715547434140399e-2
allele num: 78804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+13C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-127C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+13C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+22C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+22C>T
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 1.25e1
  variant carriers: 1050
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 7.5e0
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 1.75e1
  variant carriers: 860
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 406
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.5e0
  variant carriers: 18
num of homozygotes: 142
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-837060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837060
    reference: chr 16
allele count: 1
allele frequency: 1.2552406296287e-5
allele num: 79666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+8C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+8C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+17C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-132C>A
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.25e1
  variant carriers: 0
hgvs: c.31+8C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-837062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837062
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 80258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+15G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-134G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.31+6G>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.418+6G>T
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16678
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.25e1
  variant carriers: 0
hgvs: c.31+6G>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

16-837066-G-GCCTGCCACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837066
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837076
    reference: chr 16
allele count: 1
allele frequency: 1.239372381825843e-5
allele num: 80686
alternate allele: GCCTGCCACAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9537
  bin: 6.25e1
  variant carriers: 0
hgvs: c.23_31+1dupGTGTGGCAGG
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-837073-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837073
    reference: chr 16
allele count: 1297
allele frequency: 1.578934553954032e-2
allele num: 82144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.409+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.219+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.22+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.409+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.26T>C
  hgvsp: ENSP00000454616.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*72+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.22+4T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.413T>C
  hgvsp: ENSP00000456231.1:p.Val138Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-145T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.419+4T>C
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 2.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 7.5e0
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 1.75e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 2.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 1.25e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 1146
hgvs: p.Val9Ala
num of homozygotes: 58
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ

16-837081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837081
    reference: chr 16
allele count: 43
allele frequency: 5.03124049329558e-4
allele num: 85466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.18G>A
  hgvsp: ENST00000567114.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.18G>A
  hgvsp: ENST00000565377.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.405G>A
  hgvsp: ENST00000007264.2:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.405G>A
  hgvsp: ENST00000563560.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.415G>A
  hgvsp: ENSP00000457527.1:p.Ala139Thr
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.18G>A
  hgvsp: ENST00000569601.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.215G>A
  hgvsp: ENST00000562070.1:c.215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-153G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.405G>A
  hgvsp: ENST00000561734.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15693
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala139Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-837082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837082
    reference: chr 16
allele count: 17
allele frequency: 1.963184516248239e-4
allele num: 86594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-154C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.17C>T
  hgvsp: ENSP00000454616.1:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.17C>T
  hgvsp: ENSP00000456692.1:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.17C>T
  hgvsp: ENSP00000455862.1:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.214C>T
  hgvsp: ENSP00000458059.1:p.Ser72Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.404C>T
  hgvsp: ENSP00000007264.2:p.Ser135Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.404C>T
  hgvsp: ENSP00000456231.1:p.Ser135Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.414C>T
  hgvsp: ENST00000567283.1:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.404C>T
  hgvsp: ENSP00000455026.1:p.Ser135Leu
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20805
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser135Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

16-837083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837083
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837083
    reference: chr 16
allele count: 1
allele frequency: 1.146420874031274e-5
allele num: 87228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.16T>C
  hgvsp: ENSP00000456692.1:p.Ser6Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.16T>C
  hgvsp: ENSP00000454616.1:p.Ser6Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.403T>C
  hgvsp: ENSP00000455026.1:p.Ser135Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.403T>C
  hgvsp: ENSP00000456231.1:p.Ser135Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.413T>C
  hgvsp: ENSP00000457527.1:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.213T>C
  hgvsp: ENSP00000458059.1:p.Ser72Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*66T>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.403T>C
  hgvsp: ENSP00000007264.2:p.Ser135Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.16T>C
  hgvsp: ENSP00000455862.1:p.Ser6Pro
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-155T>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser135Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

16-837089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837089
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837089
    reference: chr 16
allele count: 3
allele frequency: 3.363832077502691e-5
allele num: 89184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.207G>A
  hgvsp: ENSP00000458059.1:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.10G>A
  hgvsp: ENSP00000456692.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.397G>A
  hgvsp: ENSP00000456231.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.397G>A
  hgvsp: ENSP00000007264.2:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.407G>A
  hgvsp: ENSP00000457527.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-161G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.10G>A
  hgvsp: ENSP00000455862.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.10G>A
  hgvsp: ENSP00000454616.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.397G>A
  hgvsp: ENSP00000455026.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu133Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

16-837090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837090
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837090
    reference: chr 16
allele count: 1
allele frequency: 1.114529000044581e-5
allele num: 89724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.396C>T
  hgvsp: ENST00000563560.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.206C>T
  hgvsp: ENST00000562070.1:c.206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.406C>T
  hgvsp: ENSP00000457527.1:p.Arg136Ter
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.396C>T
  hgvsp: ENST00000007264.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.9C>T
  hgvsp: ENST00000569601.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.396C>T
  hgvsp: ENST00000561734.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.9C>T
  hgvsp: ENST00000567114.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-162C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.9C>T
  hgvsp: ENST00000565377.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18903
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg136Ter
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-837092-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837092
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837092
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 90828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.204A>C
  hgvsp: ENSP00000458059.1:p.Ile69Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*57A>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.7A>C
  hgvsp: ENSP00000455862.1:p.Ile3Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.394A>C
  hgvsp: ENSP00000456231.1:p.Ile132Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.7A>C
  hgvsp: ENSP00000454616.1:p.Ile3Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.394A>C
  hgvsp: ENSP00000007264.2:p.Ile132Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.394A>C
  hgvsp: ENSP00000455026.1:p.Ile132Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.7A>C
  hgvsp: ENSP00000456692.1:p.Ile3Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-164A>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.404A>C
  hgvsp: ENSP00000457527.1:p.His135Pro
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile132Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-837105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837105
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837105
    reference: chr 16
allele count: 1
allele frequency: 1.066075350205753e-5
allele num: 93802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-177C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.191C>T
  hgvsp: ENST00000562070.1:c.191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.381C>T
  hgvsp: ENST00000561734.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.391C>T
  hgvsp: ENSP00000457527.1:p.Pro131Ser
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.381C>T
  hgvsp: ENST00000007264.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.381C>T
  hgvsp: ENST00000563560.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro131Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-837109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837109
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837109
    reference: chr 16
allele count: 13
allele frequency: 1.379661664508734e-4
allele num: 94226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.377G>A
  hgvsp: ENSP00000456231.1:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-181G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.377G>A
  hgvsp: ENSP00000007264.2:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.387G>A
  hgvsp: ENST00000567283.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.377G>A
  hgvsp: ENSP00000455026.1:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.187G>A
  hgvsp: ENSP00000458059.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23341
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg126Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-837110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837110
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837110
    reference: chr 16
allele count: 2
allele frequency: 2.108948267498998e-5
allele num: 94834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-182C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.186C>T
  hgvsp: ENSP00000458059.1:p.Arg63Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.386C>T
  hgvsp: ENSP00000457527.1:p.Pro129Leu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.376C>T
  hgvsp: ENSP00000455026.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.376C>T
  hgvsp: ENSP00000456231.1:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.376C>T
  hgvsp: ENSP00000007264.2:p.Arg126Trp
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg126Trp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

16-837110-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837110
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837110
    reference: chr 16
allele count: 1
allele frequency: 1.054474133749499e-5
allele num: 94834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.386C>A
  hgvsp: ENSP00000457527.1:p.Pro129Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.376C>A
  hgvsp: ENST00000561734.1:c.376C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.376C>A
  hgvsp: ENST00000563560.1:c.376C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.186C>A
  hgvsp: ENST00000562070.1:c.186C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.376C>A
  hgvsp: ENST00000007264.2:c.376C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*39C>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-182C>A
  variant of: http://identifiers.org/hgnc/14173
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23796
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro129Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-837113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837113
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837113
    reference: chr 16
allele count: 1
allele frequency: 1.045128655337472e-5
allele num: 95682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.373G>A
  hgvsp: ENSP00000007264.2:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.373G>A
  hgvsp: ENSP00000455026.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.383G>A
  hgvsp: ENSP00000457527.1:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-185G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.183G>A
  hgvsp: ENSP00000458059.1:p.Gly62Ser
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.373G>A
  hgvsp: ENSP00000456231.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly125Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-837116-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 837116
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 837116
    reference: chr 16
allele count: 344
allele frequency: 3.584229390681004e-3
allele num: 95976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000458059
  ensembl transcript: ENST00000562070
  gene symbol: RPUSD1
  hgvsc: ENST00000562070.1:c.180G>C
  hgvsp: ENSP00000458059.1:p.Glu61Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457722
  ensembl transcript: ENST00000565809
  gene symbol: RPUSD1
  hgvsc: ENST00000565809.1:c.307-188G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000457527
  ensembl transcript: ENST00000567283
  gene symbol: RPUSD1
  hgvsc: ENST00000567283.1:c.380G>C
  hgvsp: ENSP00000457527.1:p.Gly127Ala
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000454616
  ensembl transcript: ENST00000569601
  gene symbol: RPUSD1
  hgvsc: ENST00000569601.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000007264
  ensembl transcript: ENST00000007264
  gene symbol: RPUSD1
  hgvsc: ENST00000007264.2:c.370G>C
  hgvsp: ENSP00000007264.2:p.Glu124Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456545
  ensembl transcript: ENST00000565503
  gene symbol: RPUSD1
  hgvsc: ENST00000565503.1:c.*33G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456231
  ensembl transcript: ENST00000563560
  gene symbol: RPUSD1
  hgvsc: ENST00000563560.1:c.370G>C
  hgvsp: ENSP00000456231.1:p.Glu124Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455026
  ensembl transcript: ENST00000561734
  gene symbol: RPUSD1
  hgvsc: ENST00000561734.1:c.370G>C
  hgvsp: ENSP00000455026.1:p.Glu124Gln
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000455862
  ensembl transcript: ENST00000567114
  gene symbol: RPUSD1
  hgvsc: ENST00000567114.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/14173
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000007376
  ensembl protein: ENSP00000456692
  ensembl transcript: ENST00000565377
  gene symbol: RPUSD1
  hgvsc: ENST00000565377.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/14173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 1.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 8558
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24813
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 7.5e0
  variant carriers: 8
hgvs: p.Glu124Gln
num of homozygotes: 4
reference allele: C

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

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1088
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6289
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 2.041e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.455548e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 1.456005e6

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 6.31e-1

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

GenotypeQuality
all individuals: 46950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 962
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6286
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.029568589432865e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
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: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.456005e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.063377286261165e-4
allele num: 65828
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.456201e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038220817889044e-5
allele num: 65828
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.456201e6

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 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: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.455497e6

VQSLOD
type: SiteQuality
SIO_000300: -5.263e-1

QD
type: SiteQuality
SIO_000300: 1.606e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.07e-1

GenotypeQuality
all individuals: 6278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Other
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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Latino
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MQ
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QD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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Latino
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MQ
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Finnish)
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African
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Other
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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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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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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ClippingRankSum
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SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 1.454253e6

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

GenotypeQuality
all individuals: 968
bin: 9.75e1
variant carriers: 12

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.7497569511958e-4
allele num: 10286
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.454395e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 1.234e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 1874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6263
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.962e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.453738e6

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

GenotypeQuality
all individuals: 2079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65738
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.45269e6

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 6249
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46608
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.451297e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.495e1

FS
type: SiteQuality
SIO_000300: 2.624e0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.225940909648155e-4
allele num: 16314
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.085e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.447309e6

MQRankSum
type: SiteQuality
SIO_000300: -3.476e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 1
allele frequency: 6.139489194499017e-5
allele num: 16288
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.445434e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
all individuals: 277
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 733
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 46129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523879186858066e-5
allele num: 65622
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

DP
type: SiteQuality
SIO_000300: 1.445434e6

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

GenotypeQuality
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 1859
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 46056
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 6204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 769
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GenotypeQuality
all individuals: 1083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.444516e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 4.546e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.314e1

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

GenotypeQuality
all individuals: 769
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
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SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.444516e6

FS
type: SiteQuality
SIO_000300: 4.546e0

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
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SIO_000300: 1.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-5
allele num: 65560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.440803e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575960951799878e-5
allele num: 65560
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 1.440803e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 960
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.175889328063241e-5
allele num: 16192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

FS
type: SiteQuality
SIO_000300: 1.519e0

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.438682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.423e0

DP
type: SiteQuality
SIO_000300: 1.434129e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

FS
type: SiteQuality
SIO_000300: 1.1333e1

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.57e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

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

South Asian
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allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
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SIO_000300: 2.0e0

DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.453e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 4.609e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

DP
type: SiteQuality
SIO_000300: 1.422335e6

GenotypeQuality
all individuals: 1075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.302535602639806e-3
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.853e0

FS
type: SiteQuality
SIO_000300: 1.075e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 1.414457e6

QD
type: SiteQuality
SIO_000300: 1.402e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.406139e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.258494840171155e-4
allele num: 15892
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.8e0

FS
type: SiteQuality
SIO_000300: 3.765e0

DP
type: SiteQuality
SIO_000300: 1.383334e6

QD
type: SiteQuality
SIO_000300: 2.706e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 5468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 169
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 543
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.000553999569111e-4
allele num: 64982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.370767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 2826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.447453255963895e-5
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.351445e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.691531785127844e-4
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.350326e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64588
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.444129398118315e-5
allele num: 15518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

QD
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.345879e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -8.179999999999999e-1

MQRankSum
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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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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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Latino
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allele frequency: 2.378121284185493e-4
allele num: 8410
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 2.076929467475284e-5
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num of homozygotes: 0

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 1.208313194780087e-4
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num of homozygotes: 0

East Asian
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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

South Asian
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InbreedingCoeff
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SIO_000300: -9.2e-3

DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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MQ
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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African
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South Asian
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 7676
num of homozygotes: 0

African
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European (Non-Finnish)
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allele frequency: 4.375662106766155e-4
allele num: 43422
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South Asian
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Other
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East Asian
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European (Finnish)
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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Other
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43294
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.600104004160167e-4
allele num: 7692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 8.5312e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 5.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6381
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.603406326034063e-5
allele num: 13152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 3.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -2.903e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 8.54918e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 1381
bin: 6.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.584786053882726e-4
allele num: 6310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.965408805031447e-4
allele num: 5088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 8.55675e5

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.346e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
all individuals: 2410
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.169572107765452e-4
allele num: 6310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.526018617427133e-4
allele num: 13106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42824
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

DP
type: SiteQuality
SIO_000300: 8.55675e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

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

GenotypeQuality
all individuals: 786
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GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 6012
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1889
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variant carriers: 0

GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1046
bin: 4.75e1
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GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.703668861712135e-5
allele num: 42520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.64642911760208e-5
allele num: 13078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.57853e5

FS
type: SiteQuality
SIO_000300: 3.707e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
all individuals: 3485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 4.25e1
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GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 603
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GenotypeQuality
all individuals: 6680
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.82321455880104e-4
allele num: 13078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 3.707e0

DP
type: SiteQuality
SIO_000300: 8.57853e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 6.283380458686773e-4
allele num: 6366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.686035613870666e-5
allele num: 42680
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.301744337412132e-4
allele num: 7682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 8.62934e5

FS
type: SiteQuality
SIO_000300: 1.5484e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

VQSLOD
type: SiteQuality
SIO_000300: -1.047e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 839
bin: 4.75e1
variant carriers: 55

GenotypeQuality
all individuals: 7700
bin: 6.25e1
variant carriers: 35

GenotypeQuality
all individuals: 407
bin: 5.25e1
variant carriers: 40

GenotypeQuality
all individuals: 3073
bin: 3.75e1
variant carriers: 28

GenotypeQuality
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bin: 8.75e1
variant carriers: 60

GenotypeQuality
all individuals: 1431
bin: 1.25e1
variant carriers: 19

GenotypeQuality
all individuals: 21078
bin: 2.25e1
variant carriers: 34

GenotypeQuality
all individuals: 1441
bin: 1.75e1
variant carriers: 26

GenotypeQuality
all individuals: 5485
bin: 2.75e1
variant carriers: 21

GenotypeQuality
all individuals: 3445
bin: 9.75e1
variant carriers: 2553

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 53

GenotypeQuality
all individuals: 1432
bin: 6.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1047
bin: 2.5e0
variant carriers: 15

GenotypeQuality
all individuals: 625
bin: 7.25e1
variant carriers: 43

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 65

GenotypeQuality
all individuals: 5680
bin: 3.25e1
variant carriers: 25

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 31

African
type: Population
allele count: 966
allele frequency: 1.517436380772856e-1
allele num: 6366
num of homozygotes: 71

East Asian
type: Population
allele count: 10
allele frequency: 1.956181533646322e-3
allele num: 5112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 7.585335018963337e-3
allele num: 3164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 706
allele frequency: 1.651384730538922e-2
allele num: 42752
num of homozygotes: 2

Latino
type: Population
allele count: 1132
allele frequency: 1.478578892371996e-1
allele num: 7656
num of homozygotes: 69

Other
type: Population
allele count: 14
allele frequency: 2.372881355932203e-2
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 5.773321178972957e-3
allele num: 13164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.05e-2

FS
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 8.7485e5

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 3327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 6.75e1
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 681
bin: 5.25e1
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GenotypeQuality
all individuals: 205
bin: 8.75e1
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GenotypeQuality
all individuals: 3447
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GenotypeQuality
all individuals: 1961
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GenotypeQuality
all individuals: 1337
bin: 1.25e1
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GenotypeQuality
all individuals: 21688
bin: 2.25e1
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GenotypeQuality
all individuals: 1038
bin: 9.75e1
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GenotypeQuality
all individuals: 5815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.319539803303025e-5
allele num: 43112
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.234999999999999e0

DP
type: SiteQuality
SIO_000300: 8.73784e5

QD
type: SiteQuality
SIO_000300: 7.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.325e0

GenotypeQuality
all individuals: 368
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

QD
type: SiteQuality
SIO_000300: 1.735e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.7988e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2845
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.292316156244269e-5
allele num: 43624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.075e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 8.92424e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 5.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 5127
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2948
bin: 3.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1051
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 21642
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2173
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 827
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1156
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variant carriers: 6

GenotypeQuality
all individuals: 11095
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 696
bin: 2.5e0
variant carriers: 4

GenotypeQuality
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bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 901
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 5454
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1638
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 626
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 17

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 19

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 9

Other
type: Population
allele count: 10
allele frequency: 1.639344262295082e-2
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

Latino
type: Population
allele count: 87
allele frequency: 1.046427712292519e-2
allele num: 8314
num of homozygotes: 1

East Asian
type: Population
allele count: 204
allele frequency: 3.721269609631522e-2
allele num: 5482
num of homozygotes: 4

African
type: Population
allele count: 661
allele frequency: 1.016610273761919e-1
allele num: 6502
num of homozygotes: 48

South Asian
type: Population
allele count: 200
allele frequency: 1.506024096385542e-2
allele num: 13280
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 135
allele frequency: 3.026634382566586e-3
allele num: 44604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.582e1

DP
type: SiteQuality
SIO_000300: 9.35243e5

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1775
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
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variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 896
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variant carriers: 0

GenotypeQuality
all individuals: 4710
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GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 998
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variant carriers: 0

GenotypeQuality
all individuals: 903
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variant carriers: 0

GenotypeQuality
all individuals: 651
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variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 2

GenotypeQuality
all individuals: 5041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14437
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.41399762752076e-5
allele num: 13488
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 5.563282336578581e-3
allele num: 7190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.31000231000231e-4
allele num: 8658
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.282e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.74023e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
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variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 2682
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variant carriers: 0

GenotypeQuality
all individuals: 16383
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variant carriers: 1

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 640
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GenotypeQuality
all individuals: 4532
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 827
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1138
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 255
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GenotypeQuality
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 1007
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variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 3.210341580344149e-4
allele num: 46724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.870264064293915e-4
allele num: 3484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.138952164009112e-4
allele num: 8780
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 9.86988e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 801
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13622
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.123683316343867e-5
allele num: 47088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 4.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.93142e5

GenotypeQuality
all individuals: 609
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4070
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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
all individuals: 3910
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GenotypeQuality
all individuals: 678
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GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 874
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GenotypeQuality
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GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 1125
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.208095356344674e-5
allele num: 48324
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 1.03139e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

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

Latino
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allele frequency: 1.027326895418122e-3
allele num: 9734
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South Asian
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Other
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 5.842486562280907e-5
allele num: 51348
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MQRankSum
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MQ
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DP
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BaseQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -4.1e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East 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

African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.870718018192374e-5
allele num: 51670
num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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African
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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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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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