16-1836685-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836685
    reference: chr 16
allele count: 13
allele frequency: 1.102087183573814e-4
allele num: 117958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1974G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.253G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5189C>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.189G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+29G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+29G>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

16-1836686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836686
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836686
    reference: chr 16
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1975C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.254C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.190C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5190G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+30C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+30C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

16-1836687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836687
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836687
    reference: chr 16
allele count: 1
allele frequency: 8.467543904215143e-6
allele num: 118098
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.191C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1976C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.255C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5191G>A
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-1836689-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836689
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836689
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 118036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.193C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1978C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+33C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.257C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5193G>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+33C>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-1836689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836689
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836689
    reference: chr 16
allele count: 28
allele frequency: 2.372157646819614e-4
allele num: 118036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.193C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5193G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1978C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.257C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+33C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

16-1836690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836690
    reference: chr 16
allele count: 3
allele frequency: 2.541898967989019e-5
allele num: 118022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.258G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5194C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1979G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.194G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

16-1836690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836690
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836690
    reference: chr 16
allele count: 8
allele frequency: 6.778397247970718e-5
allele num: 118022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.258G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1979G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.194G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+34G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5194C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+34G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

16-1836696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836696
    reference: chr 16
allele count: 1
allele frequency: 8.477306251165629e-6
allele num: 117962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5200G>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.200C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1985C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.264C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.224+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.135+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+40C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+40C>G
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

16-1836698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836698
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836698
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 117892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5202C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.266G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.202G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-41G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1987G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+42G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-41G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+42G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-1836701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836701
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836701
    reference: chr 16
allele count: 2
allele frequency: 1.69715895590781e-5
allele num: 117844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1990C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.269C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-38C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5205G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-38C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+45C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.205C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+45C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

16-1836702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836702
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836702
    reference: chr 16
allele count: 30
allele frequency: 2.548116941580172e-4
allele num: 117734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1991G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.270G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.206G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-37G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5206C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+46G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-37G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+46G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

16-1836702-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836702
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836702
    reference: chr 16
allele count: 1
allele frequency: 8.493723138600575e-6
allele num: 117734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5206C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1991G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.206G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.270G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-37G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+46G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-37G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-1836706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836706
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836706
    reference: chr 16
allele count: 1
allele frequency: 8.485650764557135e-6
allele num: 117846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.274C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-46+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5210G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.135+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.210C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.399+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.200+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-33C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*428+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-46+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.135+50C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-1836708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836708
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836708
    reference: chr 16
allele count: 1
allele frequency: 8.49199205149544e-6
allele num: 117758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.212C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+52C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1997C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.276C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5212G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+52C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+52C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-31C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-50C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+52C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

16-1836709-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836709
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836709
    reference: chr 16
allele count: 95026
allele frequency: 8.046504538680396e-1
allele num: 118096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-30G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.213G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.277G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1998G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+53G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-30G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-49G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+53G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+53G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5213C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+53G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-49G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 745
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 1417
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.75e1
  variant carriers: 3178
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 1126
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 646
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 6590
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.25e1
  variant carriers: 2088
genotype quality: GenotypeQuality
num of homozygotes: 38348
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-1836709-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836709
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836709
    reference: chr 16
allele count: 744
allele frequency: 6.299959355100935e-3
allele num: 118096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+53G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+53G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-30G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+53G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.213G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+53G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1998G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.277G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-30G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-49G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5213C>A
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 5.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 4
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

16-1836710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836710
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836710
    reference: chr 16
allele count: 13658
allele frequency: 1.160900977475563e-1
allele num: 117650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.214G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.278G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-29G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+54G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+54G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-48G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-29G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.1999G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+54G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5214C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+54G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-48G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 1094
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 5.75e1
  variant carriers: 1076
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 6.25e1
  variant carriers: 844
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.75e1
  variant carriers: 652
genotype quality: GenotypeQuality
num of homozygotes: 1051
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-1836715-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836715
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836715
    reference: chr 16
allele count: 2
allele frequency: 1.702301511643742e-5
allele num: 117488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+59G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-24G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2004G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+59G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.219G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+59G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-24G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.283G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+59G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-43G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5219C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-43G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

16-1836720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836720
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836720
    reference: chr 16
allele count: 4
allele frequency: 3.408606731998295e-5
allele num: 117350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2009G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-19G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+64G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+64G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.224G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.288G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+64G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-38G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+64G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-19G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5224C>T
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

16-1836722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836722
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836722
    reference: chr 16
allele count: 4
allele frequency: 3.414892345518808e-5
allele num: 117134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.226C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+66C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2011C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+66C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+66C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5226G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-17C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.290C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-17C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-36C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+66C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

16-1836723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836723
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836723
    reference: chr 16
allele count: 4
allele frequency: 3.410815696573835e-5
allele num: 117274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+67G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2012G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5227C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+67G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+67G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+67G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.227G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.291G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-35G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-16G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-1836724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836724
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836724
    reference: chr 16
allele count: 9
allele frequency: 7.673811838133729e-5
allele num: 117282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+68G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2013G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+68G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+68G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-15G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5228C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.228G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.292G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-15G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+68G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-34G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-34G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

16-1836731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836731
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836731
    reference: chr 16
allele count: 6
allele frequency: 5.120327700972862e-5
allele num: 117180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-8C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+75C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+75C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.299C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-8C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.235C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2020C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+75C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+75C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-27C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5235G>A
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.136-8C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-1836732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836732
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836732
    reference: chr 16
allele count: 2
allele frequency: 1.706455521236839e-5
allele num: 117202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+76G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.300G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-7G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5236C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.236G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+76G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+76G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+76G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-7G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-26G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2021G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.136-7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

16-1836738-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836738
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836738
    reference: chr 16
allele count: 6
allele frequency: 5.116572578582027e-5
allele num: 117266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.242G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.306G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+82G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.136-1G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2027G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5242C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+82G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.225-1G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+82G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-20G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+82G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.136-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-1836741-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836741
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836741
    reference: chr 16
allele count: 6
allele frequency: 5.115002301751036e-5
allele num: 117302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.309T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+85T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.245T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+85T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.138T>G
  hgvsp: ENST00000563136.1:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2030T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.227T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+85T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-17T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+85T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5245A>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-17T>G
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.138T>G
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-1836742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836742
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836742
    reference: chr 16
allele count: 1
allele frequency: 8.526312199447495e-6
allele num: 117284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2031G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.139G>A
  hgvsp: ENSP00000454576.1:p.Val47Met
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5246C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.246G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.310G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+86G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+86G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+86G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.228G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+86G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-16G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-16G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val47Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-1836746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836746
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836746
    reference: chr 16
allele count: 2
allele frequency: 1.70543693294222e-5
allele num: 117272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+90C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.314C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+90C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+90C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.250C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.232C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2035C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.143C>T
  hgvsp: ENSP00000454576.1:p.Pro48Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-12C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5250G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+90C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-12C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro48Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-1836747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836747
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836747
    reference: chr 16
allele count: 3
allele frequency: 2.55867903930131e-5
allele num: 117248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+91G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2036G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.315G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.144G>A
  hgvsp: ENST00000563136.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.251G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+91G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.233G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+91G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-11G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+91G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5251C>T
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro48Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-1836753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836753
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836753
    reference: chr 16
allele count: 3
allele frequency: 2.55388701603841e-5
allele num: 117468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-45-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.150T>C
  hgvsp: ENST00000563136.1:c.150T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.136-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.201-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+97T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2042T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.136-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.400-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+97T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*429-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-45-5T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5257A>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.257T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.239T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+97T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.321T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+97T>C
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.136-5T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-1836762-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836762
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836762
    reference: chr 16
allele count: 1
allele frequency: 8.50933474021001e-6
allele num: 117518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+106G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-41G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.159G>C
  hgvsp: ENST00000563136.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.140G>C
  hgvsp: ENSP00000454815.1:p.Gly47Ala
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.248G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2051G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*433G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.266G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+106G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5266C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.140G>C
  hgvsp: ENSP00000262302.9:p.Gly47Ala
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.404G>C
  hgvsp: ENSP00000454982.1:p.Gly135Ala
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.205G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+106G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.330G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+106G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-41G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly47Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/16-1836766-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836766
    reference: chr 16
allele count: 1
allele frequency: 8.50383522968859e-6
allele num: 117594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-37C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.252C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+110C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.144C>A
  hgvsp: ENST00000565134.1:c.144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+110C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2055C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+110C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.209C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.163C>A
  hgvsp: ENSP00000454576.1:p.Pro55Thr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.144C>A
  hgvsp: ENST00000262302.9:c.144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.408C>A
  hgvsp: ENST00000568287.1:c.408C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-37C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.334C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5270G>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.270C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+110C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*437C>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro55Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

16-1836771-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836771
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836771
    reference: chr 16
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.214A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.339A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.275A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+115A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.413A>T
  hgvsp: ENSP00000454982.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.149A>T
  hgvsp: ENSP00000262302.9:p.Asp50Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.149A>T
  hgvsp: ENSP00000454815.1:p.Asp50Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*442A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.257A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+115A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+115A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.168A>T
  hgvsp: ENST00000563136.1:c.168A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5275T>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2060A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+115A>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp50Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

16-1836778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836778
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836778
    reference: chr 16
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.156C>T
  hgvsp: ENST00000262302.9:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+122C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.346C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.282C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*449C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.175C>T
  hgvsp: ENSP00000454576.1:p.Pro59Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2067C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.156C>T
  hgvsp: ENST00000565134.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+122C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.221C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.264C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+122C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+122C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.420C>T
  hgvsp: ENST00000568287.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5282G>A
  variant of: http://identifiers.org/hgnc/30629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro59Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-1836779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836779
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836779
    reference: chr 16
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+123C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.265C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.222C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.157C>T
  hgvsp: ENST00000262302.9:c.157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.347C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2068C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.176C>T
  hgvsp: ENSP00000454576.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+123C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*450C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5283G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.421C>T
  hgvsp: ENST00000568287.1:c.421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+123C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+123C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.283C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.157C>T
  hgvsp: ENST00000565134.1:c.157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro59Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-1836780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836780
    reference: chr 16
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.223T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.422T>C
  hgvsp: ENSP00000454982.1:p.Leu141Pro
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+124T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*451T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+124T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+124T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.158T>C
  hgvsp: ENSP00000454815.1:p.Leu53Pro
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5284A>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.266T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.177T>C
  hgvsp: ENST00000563136.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.348T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.158T>C
  hgvsp: ENSP00000262302.9:p.Leu53Pro
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.284T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+124T>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2069T>C
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu53Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-1836781-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836781
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836781
    reference: chr 16
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2070G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.159G>C
  hgvsp: ENST00000565134.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.159G>C
  hgvsp: ENST00000262302.9:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.178G>C
  hgvsp: ENSP00000454576.1:p.Val60Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.423G>C
  hgvsp: ENST00000568287.1:c.423G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+125G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+125G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+125G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.349G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.267G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+125G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*452G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5285C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.224G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.285G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val60Leu
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: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-1836789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836789
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836789
    reference: chr 16
allele count: 1
allele frequency: 8.497765087781913e-6
allele num: 117678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+133C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.431C>G
  hgvsp: ENSP00000454982.1:p.Pro144Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-14C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2078C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.167C>G
  hgvsp: ENSP00000262302.9:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+133C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.275C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5293G>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.357C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.167C>G
  hgvsp: ENSP00000454815.1:p.Pro56Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+133C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.232C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-14C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.186C>G
  hgvsp: ENST00000563136.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*460C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+133C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.293C>G
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

16-1836791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836791
    reference: chr 16
allele count: 1
allele frequency: 8.493001766544367e-6
allele num: 117744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.277A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.433A>G
  hgvsp: ENSP00000454982.1:p.Ser145Gly
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.234A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.169A>G
  hgvsp: ENSP00000454815.1:p.Ser57Gly
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.169A>G
  hgvsp: ENSP00000262302.9:p.Ser57Gly
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*462A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.295A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.188A>G
  hgvsp: ENSP00000454576.1:p.Gln63Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+135A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+135A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5295T>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-12A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.359A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2080A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+135A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+135A>G
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser57Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-1836796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836796
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836796
    reference: chr 16
allele count: 64975
allele frequency: 5.51158726927253e-1
allele num: 117888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.364C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+140C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.282C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.239C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.438C>A
  hgvsp: ENST00000568287.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*467C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5300G>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.174C>A
  hgvsp: ENST00000565134.1:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.193C>A
  hgvsp: ENSP00000454576.1:p.Pro65Thr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.300C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.174C>A
  hgvsp: ENST00000262302.9:c.174C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2085C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+140C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+140C>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+140C>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 2.75e1
  variant carriers: 3672
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 524
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 1394
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 5981
genotype quality: GenotypeQuality
hgvs: p.Pro65Thr
num of homozygotes: 18659
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-1836799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836799
    reference: chr 16
allele count: 1
allele frequency: 8.520209937972871e-6
allele num: 117368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.177C>T
  hgvsp: ENST00000262302.9:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5303G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+143C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.303C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+143C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.441C>T
  hgvsp: ENST00000568287.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.285C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.367C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.196C>T
  hgvsp: ENSP00000454576.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.242C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.177C>T
  hgvsp: ENST00000565134.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+143C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*470C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2088C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+143C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro66Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-1836800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836800
    reference: chr 16
allele count: 5
allele frequency: 4.264101383274489e-5
allele num: 117258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+144C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+144C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-3C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.442C>T
  hgvsp: ENSP00000454982.1:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+144C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.243C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+144C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2089C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5304G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.178C>T
  hgvsp: ENSP00000454815.1:p.Arg60Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.368C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*471C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.197C>T
  hgvsp: ENSP00000454576.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.178C>T
  hgvsp: ENSP00000262302.9:p.Arg60Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.304C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.286C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg60Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

16-1836801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836801
    reference: chr 16
allele count: 6
allele frequency: 5.120589891955553e-5
allele num: 117174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.179G>A
  hgvsp: ENSP00000262302.9:p.Arg60His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.369G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+145G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2090G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+145G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.443G>A
  hgvsp: ENSP00000454982.1:p.Arg148His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.198G>A
  hgvsp: ENST00000563136.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+145G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*472G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.179G>A
  hgvsp: ENSP00000454815.1:p.Arg60His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5305C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.287G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.305G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.244G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+145G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg60His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-1836802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836802
    reference: chr 16
allele count: 1
allele frequency: 8.529657619543152e-6
allele num: 117238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.180C>T
  hgvsp: ENST00000565134.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+146C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+146C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*473C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.199C>T
  hgvsp: ENSP00000454576.1:p.His67Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.444C>T
  hgvsp: ENST00000568287.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.180C>T
  hgvsp: ENST00000262302.9:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.306C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2091C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+146C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5306G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.288C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.245C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.370C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+146C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His67Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-1836803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836803
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836803
    reference: chr 16
allele count: 1
allele frequency: 8.531112968997936e-6
allele num: 117218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+147A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5307T>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+147A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.371A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.1A>G
  hgvsp: ENSP00000455896.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.1A>G
  hgvsp: ENSP00000456199.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.246A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.289A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+147A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.181A>G
  hgvsp: ENSP00000454815.1:p.Met61Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*474A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.200A>G
  hgvsp: ENSP00000454576.1:p.His67Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+147A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.181A>G
  hgvsp: ENSP00000262302.9:p.Met61Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.445A>G
  hgvsp: ENSP00000454982.1:p.Met149Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2092A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.307A>G
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-1836804-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836804
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836804
    reference: chr 16
allele count: 1
allele frequency: 8.535336292249914e-6
allele num: 117160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.2T>G
  hgvsp: ENSP00000456199.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5308A>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.308T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.247T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+148T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.2T>G
  hgvsp: ENSP00000455896.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.182T>G
  hgvsp: ENSP00000262302.9:p.Met61Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.446T>G
  hgvsp: ENSP00000454982.1:p.Met149Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*475T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.201T>G
  hgvsp: ENSP00000454576.1:p.His67Gln
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2093T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+148T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.372T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+148T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.182T>G
  hgvsp: ENSP00000454815.1:p.Met61Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.290T>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+148T>G
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-1836808-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836808
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836808
    reference: chr 16
allele count: 24
allele frequency: 2.052053763808612e-4
allele num: 116956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.376C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.450C>G
  hgvsp: ENST00000568287.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.205C>G
  hgvsp: ENSP00000454576.1:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+152C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2097C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.312C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+152C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*479C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.294C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+152C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.6C>G
  hgvsp: ENST00000565987.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.186C>G
  hgvsp: ENST00000565134.1:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5312G>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.186C>G
  hgvsp: ENST00000262302.9:c.186C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+152C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.251C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.6C>G
  hgvsp: ENST00000562263.1:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg69Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

16-1836808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836808
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836808
    reference: chr 16
allele count: 4
allele frequency: 3.420089606347686e-5
allele num: 116956
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.186C>T
  hgvsp: ENST00000262302.9:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+152C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2097C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5312G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.294C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.251C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.376C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.6C>T
  hgvsp: ENST00000565987.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.6C>T
  hgvsp: ENST00000562263.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.450C>T
  hgvsp: ENST00000568287.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.205C>T
  hgvsp: ENSP00000454576.1:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.186C>T
  hgvsp: ENST00000565134.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+152C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+152C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*479C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.312C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+152C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg69Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

16-1836808-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836808
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836807
    reference: chr 16
allele count: 1
allele frequency: 8.550224015869215e-6
allele num: 116956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.209delG
  hgvsp: ENSP00000454576.1:p.Gly70AlafsTer?
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.10delG
  hgvsp: ENSP00000455896.1:p.Ala4ArgfsTer50
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.380delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+156delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+156delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.316delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+156delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.454delG
  hgvsp: ENSP00000454982.1:p.Ala152ArgfsTer50
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.190delG
  hgvsp: ENSP00000454815.1:p.Ala64ArgfsTer50
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.190delG
  hgvsp: ENSP00000262302.9:p.Ala64ArgfsTer50
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.10delG
  hgvsp: ENSP00000456199.1:p.Ala4ArgfsTer50
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+156delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.255delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.298delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5313delC
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2101delG
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*483delG
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala64ArgfsTer50
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: CG
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-1836809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836809
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836809
    reference: chr 16
allele count: 8
allele frequency: 6.84333886503225e-5
allele num: 116902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.295G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+153G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.187G>A
  hgvsp: ENSP00000262302.9:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.7G>A
  hgvsp: ENSP00000456199.1:p.Gly3Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5313C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.7G>A
  hgvsp: ENSP00000455896.1:p.Gly3Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.187G>A
  hgvsp: ENSP00000454815.1:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*480G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.206G>A
  hgvsp: ENSP00000454576.1:p.Arg69Gln
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+153G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2098G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.451G>A
  hgvsp: ENSP00000454982.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.313G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+153G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.377G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.252G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+153G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly63Arg
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: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

16-1836813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836813
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836813
    reference: chr 16
allele count: 10
allele frequency: 8.5647236163689e-5
allele num: 116758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.191C>T
  hgvsp: ENSP00000262302.9:p.Ala64Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5317G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.210C>T
  hgvsp: ENST00000563136.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.191C>T
  hgvsp: ENSP00000454815.1:p.Ala64Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.11C>T
  hgvsp: ENSP00000455896.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+157C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*484C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.256C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+157C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.11C>T
  hgvsp: ENSP00000456199.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.317C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.455C>T
  hgvsp: ENSP00000454982.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.381C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2102C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+157C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.299C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+157C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala64Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

16-1836814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836814
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836814
    reference: chr 16
allele count: 12
allele frequency: 1.02931841965312e-4
allele num: 116582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.257G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*485G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.12G>A
  hgvsp: ENST00000565987.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.192G>A
  hgvsp: ENST00000565134.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+158G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.456G>A
  hgvsp: ENST00000568287.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.211G>A
  hgvsp: ENSP00000454576.1:p.Ala71Thr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+158G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.300G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2103G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.12G>A
  hgvsp: ENST00000562263.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.318G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+158G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5318C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+158G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.192G>A
  hgvsp: ENST00000262302.9:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.382G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala71Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-1836814-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836814
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836814
    reference: chr 16
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2103G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.456G>C
  hgvsp: ENST00000568287.1:c.456G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.382G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.192G>C
  hgvsp: ENST00000262302.9:c.192G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.300G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.12G>C
  hgvsp: ENST00000565987.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+158G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*485G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+158G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.318G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.211G>C
  hgvsp: ENSP00000454576.1:p.Ala71Pro
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.192G>C
  hgvsp: ENST00000565134.1:c.192G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+158G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.12G>C
  hgvsp: ENST00000562263.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.257G>C
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5318C>G
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+158G>C
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala71Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

16-1836816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836816
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836816
    reference: chr 16
allele count: 1
allele frequency: 8.574564412127864e-6
allele num: 116624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.213A>G
  hgvsp: ENST00000563136.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.458A>G
  hgvsp: ENSP00000454982.1:p.Gln153Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.194A>G
  hgvsp: ENSP00000454815.1:p.Gln65Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*487A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.384A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2105A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.14A>G
  hgvsp: ENSP00000455896.1:p.Gln5Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.320A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.14A>G
  hgvsp: ENSP00000456199.1:p.Gln5Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.259A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.302A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+160A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+160A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+160A>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.194A>G
  hgvsp: ENSP00000262302.9:p.Gln65Arg
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5320T>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+160A>G
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln65Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

16-1836818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836818
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836818
    reference: chr 16
allele count: 2
allele frequency: 1.716590850570766e-5
allele num: 116510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.16G>A
  hgvsp: ENSP00000456199.1:p.Gly6Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+162G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.460G>A
  hgvsp: ENSP00000454982.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+162G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.386G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.16G>A
  hgvsp: ENSP00000455896.1:p.Gly6Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.215G>A
  hgvsp: ENSP00000454576.1:p.Gly72Glu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.196G>A
  hgvsp: ENSP00000454815.1:p.Gly66Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.196G>A
  hgvsp: ENSP00000262302.9:p.Gly66Ser
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.304G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+162G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2107G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+162G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.322G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.261G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*489G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5322C>T
  variant of: http://identifiers.org/hgnc/30629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly66Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-1836820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836820
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836820
    reference: chr 16
allele count: 1
allele frequency: 8.598748022287955e-6
allele num: 116296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*491C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.198C>T
  hgvsp: ENST00000262302.9:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.217C>T
  hgvsp: ENSP00000454576.1:p.Gln73Ter
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2109C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+164C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.263C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.306C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+164C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.18C>T
  hgvsp: ENST00000565987.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.462C>T
  hgvsp: ENST00000568287.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+164C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5324G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+164C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.18C>T
  hgvsp: ENST00000562263.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.324C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.388C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.198C>T
  hgvsp: ENST00000565134.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln73Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-1836829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836829
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836829
    reference: chr 16
allele count: 55
allele frequency: 4.759020507052003e-4
allele num: 115570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.207G>A
  hgvsp: ENST00000565134.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+173G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.272G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.397G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.207G>A
  hgvsp: ENST00000262302.9:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.226G>A
  hgvsp: ENSP00000454576.1:p.Ala76Thr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.27G>A
  hgvsp: ENST00000565987.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.471G>A
  hgvsp: ENST00000568287.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+173G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.27G>A
  hgvsp: ENST00000562263.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5333C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.315G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+173G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+173G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.333G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*500G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2118G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala76Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-1836830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836830
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836830
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 115510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.227C>T
  hgvsp: ENSP00000454576.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+174C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.28C>T
  hgvsp: ENSP00000456199.1:p.His10Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.208C>T
  hgvsp: ENSP00000454815.1:p.His70Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.208C>T
  hgvsp: ENSP00000262302.9:p.His70Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+174C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5334G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.334C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+174C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*501C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2119C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.472C>T
  hgvsp: ENSP00000454982.1:p.His158Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.28C>T
  hgvsp: ENSP00000455896.1:p.His10Tyr
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+174C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.316C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.398C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.273C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His70Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-1836835-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836835
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836835
    reference: chr 16
allele count: 1
allele frequency: 8.709435802748698e-6
allele num: 114818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5339C>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*506G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.213G>T
  hgvsp: ENSP00000454815.1:p.Gln71His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.403G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.33G>T
  hgvsp: ENSP00000455896.1:p.Gln11His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+179G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.278G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.213G>T
  hgvsp: ENSP00000262302.9:p.Gln71His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2124G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.232G>T
  hgvsp: ENSP00000454576.1:p.Val78Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.321G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.339G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+179G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.33G>T
  hgvsp: ENSP00000456199.1:p.Gln11His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.477G>T
  hgvsp: ENSP00000454982.1:p.Gln159His
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+179G>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+179G>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln71His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-1836838-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836838
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836838
    reference: chr 16
allele count: 1
allele frequency: 8.728897889352491e-6
allele num: 114562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.36C>G
  hgvsp: ENSP00000455896.1:p.Cys12Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.216C>G
  hgvsp: ENSP00000262302.9:p.Cys72Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.36C>G
  hgvsp: ENSP00000456199.1:p.Cys12Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+182C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*509C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5342G>C
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.216C>G
  hgvsp: ENSP00000454815.1:p.Cys72Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.480C>G
  hgvsp: ENSP00000454982.1:p.Cys160Trp
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+182C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.281C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+182C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.235C>G
  hgvsp: ENSP00000454576.1:p.Arg79Gly
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.406C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.342C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.324C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2127C>G
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+182C>G
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys72Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-1836838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836838
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836838
    reference: chr 16
allele count: 1
allele frequency: 8.728897889352491e-6
allele num: 114562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+182C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.281C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+182C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.216C>T
  hgvsp: ENST00000565134.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.235C>T
  hgvsp: ENSP00000454576.1:p.Arg79Ter
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.216C>T
  hgvsp: ENST00000262302.9:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2127C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.406C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5342G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+182C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.36C>T
  hgvsp: ENST00000562263.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.480C>T
  hgvsp: ENST00000568287.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.324C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.36C>T
  hgvsp: ENST00000565987.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*509C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.342C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+182C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg79Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

16-1836839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836839
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836839
    reference: chr 16
allele count: 35
allele frequency: 3.058264303939044e-4
allele num: 114444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.325G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.343G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.481G>A
  hgvsp: ENSP00000454982.1:p.Asp161Asn
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.236G>A
  hgvsp: ENSP00000454576.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5343C>T
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.37G>A
  hgvsp: ENSP00000456199.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.37G>A
  hgvsp: ENSP00000455896.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.217G>A
  hgvsp: ENSP00000262302.9:p.Asp73Asn
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+183G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.217G>A
  hgvsp: ENSP00000454815.1:p.Asp73Asn
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*510G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+183G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+183G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.282G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2128G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+183G>A
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.407G>A
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27391
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp73Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-1836842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1836842
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 1836842
    reference: chr 16
allele count: 26
allele frequency: 2.276986670870334e-4
allele num: 114186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000565603
  gene symbol: NUBP2
  hgvsc: ENST00000565603.1:n.346C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455896
  ensembl transcript: ENST00000565987
  gene symbol: NUBP2
  hgvsc: ENST00000565987.1:c.40C>T
  hgvsp: ENSP00000455896.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000437763
  ensembl transcript: ENST00000543305
  gene symbol: NUBP2
  hgvsc: ENST00000543305.1:c.-90+186C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000563821
  gene symbol: NUBP2
  hgvsc: ENST00000563821.1:n.2131C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454982
  ensembl transcript: ENST00000568287
  gene symbol: NUBP2
  hgvsc: ENST00000568287.1:c.484C>T
  hgvsp: ENSP00000454982.1:p.Arg162Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162032
  ensembl protein: ENSP00000455098
  ensembl transcript: ENST00000569769
  gene symbol: SPSB3
  hgvsc: ENST00000569769.1:c.-12-5346G>A
  variant of: http://identifiers.org/hgnc/30629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000262302
  ensembl transcript: ENST00000262302
  gene symbol: NUBP2
  hgvsc: ENST00000262302.9:c.220C>T
  hgvsp: ENSP00000262302.9:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454815
  ensembl transcript: ENST00000565134
  gene symbol: NUBP2
  hgvsc: ENST00000565134.1:c.220C>T
  hgvsp: ENSP00000454815.1:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000567700
  gene symbol: NUBP2
  hgvsc: ENST00000567700.1:n.410C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456284
  ensembl transcript: ENST00000569898
  gene symbol: NUBP2
  hgvsc: ENST00000569898.1:c.135+186C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000454576
  ensembl transcript: ENST00000563136
  gene symbol: NUBP2
  hgvsc: ENST00000563136.1:c.239C>T
  hgvsp: ENSP00000454576.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456199
  ensembl transcript: ENST00000562263
  gene symbol: NUBP2
  hgvsc: ENST00000562263.1:c.40C>T
  hgvsp: ENSP00000456199.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000460079
  ensembl transcript: ENST00000568706
  gene symbol: NUBP2
  hgvsc: ENST00000568706.1:c.-90+186C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000455739
  ensembl transcript: ENST00000564227
  gene symbol: NUBP2
  hgvsc: ENST00000564227.1:c.*513C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095906
  ensembl protein: ENSP00000456928
  ensembl transcript: ENST00000568834
  gene symbol: NUBP2
  hgvsc: ENST00000568834.1:c.135+186C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566090
  gene symbol: NUBP2
  hgvsc: ENST00000566090.1:n.285C>T
  variant of: http://identifiers.org/hgnc/8042
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095906
  ensembl transcript: ENST00000566447
  gene symbol: NUBP2
  hgvsc: ENST00000566447.1:n.328C>T
  variant of: http://identifiers.org/hgnc/8042
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg74Cys
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 5850
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5876
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2644
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 657
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4385
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5171
bin: 5.25e1
variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 13
allele frequency: 1.31738954195379e-3
allele num: 9868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64376
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.0e-4

BaseQRankSum
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SIO_000300: -1.973e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.691567e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
all individuals: 31232
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64468
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

BaseQRankSum
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SIO_000300: -1.846e0

DP
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SIO_000300: 2.691265e6

FS
type: SiteQuality
SIO_000300: 2.283e0

InbreedingCoeff
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SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

GenotypeDepth
all individuals: 1447
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 2.691243e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 2.689028e6

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
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SIO_000300: 3.76e-1

ReadPosRankSum
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SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeDepth
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bin: 8.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 2846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 27
allele frequency: 2.730030333670374e-3
allele num: 9890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551542232979582e-5
allele num: 64452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
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DP
type: SiteQuality
SIO_000300: 2.689028e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 2970
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GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.012145748987854e-4
allele num: 9880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.103277060575968e-5
allele num: 64448
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 1.802e0

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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DP
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SIO_000300: 2.688709e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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allele num: 9880
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Latino
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num of homozygotes: 0

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

African
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Other
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 5.29e-1

VQSLOD
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SIO_000300: 2.19e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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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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num of homozygotes: 0

East Asian
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64266
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.011940902651285e-4
allele num: 9882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 2.680891e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeDepth
all individuals: 4379
bin: 5.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554049853919314e-5
allele num: 64348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 3.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 2.681396e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 1.171e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.754e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.682427e6

GenotypeDepth
all individuals: 365
bin: 2.5e0
variant carriers: 257

GenotypeDepth
all individuals: 5097
bin: 3.25e1
variant carriers: 4600

GenotypeDepth
all individuals: 1012
bin: 9.75e1
variant carriers: 1009

GenotypeDepth
all individuals: 4947
bin: 5.75e1
variant carriers: 4925

GenotypeDepth
all individuals: 2268
bin: 7.25e1
variant carriers: 2255

GenotypeDepth
all individuals: 5984
bin: 5.25e1
variant carriers: 5960

GenotypeDepth
all individuals: 3969
bin: 6.25e1
variant carriers: 3954

GenotypeDepth
all individuals: 6141
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variant carriers: 6021

GenotypeDepth
all individuals: 1558
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variant carriers: 1555

GenotypeDepth
all individuals: 954
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variant carriers: 892

GenotypeDepth
all individuals: 6890
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variant carriers: 6840

GenotypeDepth
all individuals: 509
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variant carriers: 508

GenotypeDepth
all individuals: 3098
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variant carriers: 3084

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 205

GenotypeQuality
all individuals: 211
bin: 7.5e0
variant carriers: 147

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 1133

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 142

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 200

GenotypeQuality
all individuals: 278
bin: 3.25e1
variant carriers: 255

GenotypeQuality
all individuals: 312
bin: 2.25e1
variant carriers: 241

GenotypeQuality
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variant carriers: 15

GenotypeQuality
all individuals: 384
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variant carriers: 356

GenotypeQuality
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variant carriers: 650

GenotypeQuality
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variant carriers: 137

GenotypeQuality
all individuals: 1008
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variant carriers: 672

GenotypeQuality
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variant carriers: 276

GenotypeQuality
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GenotypeQuality
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variant carriers: 49762

GenotypeQuality
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variant carriers: 771

GenotypeQuality
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variant carriers: 572

GenotypeQuality
all individuals: 491
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variant carriers: 462

GenotypeQuality
all individuals: 979
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variant carriers: 957

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 390

Latino
type: Population
allele count: 9420
allele frequency: 8.251576734407848e-1
allele num: 11416
num of homozygotes: 3881

South Asian
type: Population
allele count: 12373
allele frequency: 7.553724053724054e-1
allele num: 16380
num of homozygotes: 4682

Other
type: Population
allele count: 697
allele frequency: 8.011494252873563e-1
allele num: 870
num of homozygotes: 279

African
type: Population
allele count: 9237
allele frequency: 9.285283474065139e-1
allele num: 9948
num of homozygotes: 4295

European (Finnish)
type: Population
allele count: 4634
allele frequency: 7.166718218373028e-1
allele num: 6466
num of homozygotes: 1637

European (Non-Finnish)
type: Population
allele count: 52329
allele frequency: 8.103976955956143e-1
allele num: 64572
num of homozygotes: 21189

East Asian
type: Population
allele count: 6336
allele frequency: 7.503552818569399e-1
allele num: 8444
num of homozygotes: 2385

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.852702e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.883e1

GenotypeDepth
all individuals: 2577
bin: 2.25e1
variant carriers: 31

GenotypeDepth
all individuals: 1558
bin: 7.75e1
variant carriers: 23

GenotypeDepth
all individuals: 3969
bin: 6.25e1
variant carriers: 55

GenotypeDepth
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variant carriers: 59

GenotypeDepth
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bin: 4.25e1
variant carriers: 71

GenotypeDepth
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variant carriers: 2

GenotypeDepth
all individuals: 5984
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variant carriers: 67

GenotypeDepth
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variant carriers: 54

GenotypeDepth
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variant carriers: 72

GenotypeDepth
all individuals: 1012
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variant carriers: 27

GenotypeDepth
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variant carriers: 6

GenotypeDepth
all individuals: 2268
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variant carriers: 44

GenotypeDepth
all individuals: 751
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variant carriers: 13

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 825
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 2

GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 979
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variant carriers: 2

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49901
bin: 9.75e1
variant carriers: 737

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 50
allele frequency: 4.379817799579537e-3
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.80940892641737e-3
allele num: 9948
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.547008547008547e-4
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 628
allele frequency: 9.725577649755311e-3
allele num: 64572
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.948963810702135e-3
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 2.852702e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

GenotypeDepth
all individuals: 877
bin: 7.25e1
variant carriers: 480

GenotypeDepth
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variant carriers: 464

GenotypeDepth
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variant carriers: 46

GenotypeDepth
all individuals: 3690
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variant carriers: 1331

GenotypeDepth
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variant carriers: 1460

GenotypeDepth
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variant carriers: 704

GenotypeDepth
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variant carriers: 1382

GenotypeDepth
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variant carriers: 307

GenotypeDepth
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variant carriers: 233

GenotypeDepth
all individuals: 1537
bin: 1.25e1
variant carriers: 179

GenotypeDepth
all individuals: 184
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variant carriers: 119

GenotypeDepth
all individuals: 519
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variant carriers: 301

GenotypeDepth
all individuals: 6401
bin: 4.25e1
variant carriers: 1603

GenotypeQuality
all individuals: 3202
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variant carriers: 27

GenotypeQuality
all individuals: 2266
bin: 9.25e1
variant carriers: 58

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 33

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 25

GenotypeQuality
all individuals: 571
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1098
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 2848
bin: 8.25e1
variant carriers: 37

GenotypeQuality
all individuals: 2677
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 608
bin: 3.25e1
variant carriers: 13

GenotypeQuality
all individuals: 5286
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 12

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 102
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 26247
bin: 9.75e1
variant carriers: 12416

GenotypeQuality
all individuals: 10867
bin: 6.25e1
variant carriers: 16

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 511
bin: 7.5e0
variant carriers: 29

East Asian
type: Population
allele count: 1138
allele frequency: 1.349620493358634e-1
allele num: 8432
num of homozygotes: 86

European (Finnish)
type: Population
allele count: 456
allele frequency: 7.156308851224105e-2
allele num: 6372
num of homozygotes: 19

Latino
type: Population
allele count: 603
allele frequency: 5.280210157618213e-2
allele num: 11420
num of homozygotes: 14

Other
type: Population
allele count: 94
allele frequency: 1.085450346420323e-1
allele num: 866
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 5748
allele frequency: 8.934066958873449e-2
allele num: 64338
num of homozygotes: 257

African
type: Population
allele count: 1509
allele frequency: 1.526092233009709e-1
allele num: 9888
num of homozygotes: 118

South Asian
type: Population
allele count: 4110
allele frequency: 2.516223827598874e-1
allele num: 16334
num of homozygotes: 551

QD
type: SiteQuality
SIO_000300: 1.74e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
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SIO_000300: 5.41e-1

VQSLOD
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DP
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BaseQRankSum
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SIO_000300: -1.629e0

MQ
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SIO_000300: 5.959e1

ClippingRankSum
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SIO_000300: -3.9e-2

ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.112937367700162e-5
allele num: 64248
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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MQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 64166
num of homozygotes: 0

African
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European (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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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 64042
num of homozygotes: 0

European (Finnish)
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African
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allele num: 9858
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Other
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South Asian
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ReadPosRankSum
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SIO_000300: 2.3e-1

VQSLOD
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InbreedingCoeff
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MQ
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DP
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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African
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BaseQRankSum
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QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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ReadPosRankSum
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DP
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FS
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
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allele frequency: 6.155361319709468e-5
allele num: 16246
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.804938965377291e-5
allele num: 64062
num of homozygotes: 0

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

VQSLOD
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SIO_000300: 3.04e0

InbreedingCoeff
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FS
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SIO_000300: 9.02e-1

MQRankSum
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ReadPosRankSum
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SIO_000300: 4.0e-1

BaseQRankSum
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SIO_000300: -9.05e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
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SIO_000300: 2.073884e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.56035451254525e-5
allele num: 64088
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16256
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
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ClippingRankSum
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SIO_000300: 5.95e-1

ReadPosRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
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SIO_000300: 3.8e-3

VQSLOD
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SIO_000300: -1.534e0

BaseQRankSum
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SIO_000300: 6.95e-1

DP
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SIO_000300: 2.072585e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.354536950420954e-5
allele num: 64140
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.073432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.114e0

VQSLOD
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SIO_000300: 1.25e0

BaseQRankSum
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SIO_000300: -2.705e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 6.072874493927126e-4
allele num: 9880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64162
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -8.2e-1

VQSLOD
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SIO_000300: 4.79e-1

ReadPosRankSum
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SIO_000300: -7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.073204e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558700667123886e-5
allele num: 64156
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Non-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 frequency: 0.0e0
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African
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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FS
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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African
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Other
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East 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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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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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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allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

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

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

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

InbreedingCoeff
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DP
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: -3.11e-1

MQRankSum
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SIO_000300: -5.9e-1

ClippingRankSum
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SIO_000300: 4.47e-1

QD
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SIO_000300: 1.183e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.550724188195888e-5
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 5.987e1

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

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

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

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

East Asian
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Other
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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SIO_000300: 2.082223e6

MQ
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SIO_000300: 6.0e1

MQRankSum
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FS
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VQSLOD
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SIO_000300: 6.09e-1

ClippingRankSum
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SIO_000300: -8.61e-1

ReadPosRankSum
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SIO_000300: 1.61e0

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele count: 0
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num of homozygotes: 0

FS
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MQ
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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African
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Latino
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East Asian
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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bin: 8.75e1
variant carriers: 296

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 1682

GenotypeDepth
all individuals: 1100
bin: 1.25e1
variant carriers: 744

GenotypeDepth
all individuals: 3389
bin: 5.75e1
variant carriers: 3373

GenotypeDepth
all individuals: 742
bin: 7.75e1
variant carriers: 740

GenotypeDepth
all individuals: 718
bin: 9.75e1
variant carriers: 717

GenotypeDepth
all individuals: 189
bin: 9.25e1
variant carriers: 189

GenotypeDepth
all individuals: 5131
bin: 2.25e1
variant carriers: 2231

GenotypeQuality
all individuals: 285
bin: 2.5e0
variant carriers: 33

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 177

GenotypeQuality
all individuals: 262
bin: 7.5e0
variant carriers: 86

GenotypeQuality
all individuals: 742
bin: 7.25e1
variant carriers: 354

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 207

GenotypeQuality
all individuals: 9316
bin: 6.25e1
variant carriers: 426

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 787

GenotypeQuality
all individuals: 41195
bin: 9.75e1
variant carriers: 41164

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 282

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 122

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 139

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 84

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 249

GenotypeQuality
all individuals: 810
bin: 7.75e1
variant carriers: 578

GenotypeQuality
all individuals: 777
bin: 8.25e1
variant carriers: 692

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 358

GenotypeQuality
all individuals: 2261
bin: 6.75e1
variant carriers: 439

GenotypeQuality
all individuals: 564
bin: 8.75e1
variant carriers: 544

GenotypeQuality
all individuals: 305
bin: 3.25e1
variant carriers: 148

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 90

African
type: Population
allele count: 5524
allele frequency: 5.514074665601917e-1
allele num: 10018
num of homozygotes: 1509

East Asian
type: Population
allele count: 3671
allele frequency: 4.340269567273587e-1
allele num: 8458
num of homozygotes: 791

Latino
type: Population
allele count: 7953
allele frequency: 6.995953553835327e-1
allele num: 11368
num of homozygotes: 2799

Other
type: Population
allele count: 461
allele frequency: 5.372960372960373e-1
allele num: 858
num of homozygotes: 121

European (Non-Finnish)
type: Population
allele count: 39019
allele frequency: 6.024983786788549e-1
allele num: 64762
num of homozygotes: 11768

European (Finnish)
type: Population
allele count: 3131
allele frequency: 5.028911018310311e-1
allele num: 6226
num of homozygotes: 790

South Asian
type: Population
allele count: 5216
allele frequency: 3.220150635880973e-1
allele num: 16198
num of homozygotes: 881

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.72e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
SIO_000300: 2.438337e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.246e0

QD
type: SiteQuality
SIO_000300: 2.008e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
all individuals: 28978
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2155
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11061
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1331
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13176
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1704
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variant carriers: 0

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

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 1835
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variant carriers: 0

GenotypeQuality
all individuals: 558
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 9324
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variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40316
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 6.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 2.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

DP
type: SiteQuality
SIO_000300: 1.60407e6

VQSLOD
type: SiteQuality
SIO_000300: -2.4e0

GenotypeDepth
all individuals: 1452
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
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variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11063
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1337
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2151
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28951
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variant carriers: 2

GenotypeDepth
all individuals: 13166
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
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variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 689
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variant carriers: 0

GenotypeQuality
all individuals: 2087
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 179
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variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 9291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.008435428800964e-4
allele num: 9958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551975665021572e-5
allele num: 64434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.603197e6

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeDepth
all individuals: 10
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1291
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11056
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 89
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GenotypeDepth
all individuals: 1363
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variant carriers: 0

GenotypeDepth
all individuals: 28898
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variant carriers: 1

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 2134
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variant carriers: 2

GenotypeDepth
all individuals: 402
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variant carriers: 3

GenotypeQuality
all individuals: 581
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variant carriers: 0

GenotypeQuality
all individuals: 1628
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variant carriers: 0

GenotypeQuality
all individuals: 657
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 344
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 2065
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variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 40239
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variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 9248
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.762769756249029e-5
allele num: 64410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 1.601365e6

FS
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeDepth
all individuals: 561
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 11119
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variant carriers: 0

GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 1306
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GenotypeDepth
all individuals: 1480
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GenotypeDepth
all individuals: 13090
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GenotypeDepth
all individuals: 0
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GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 2113
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GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 10
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GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 38
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GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
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GenotypeQuality
all individuals: 1947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
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variant carriers: 0

GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 40667
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variant carriers: 0

GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 652
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GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 9274
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variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.758e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

FS
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.600439e6

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
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GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 1501
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variant carriers: 0

GenotypeDepth
all individuals: 563
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GenotypeDepth
all individuals: 11180
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variant carriers: 0

GenotypeDepth
all individuals: 28922
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 390
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 0
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GenotypeDepth
all individuals: 83
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GenotypeDepth
all individuals: 2106
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variant carriers: 0

GenotypeQuality
all individuals: 554
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GenotypeQuality
all individuals: 1628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
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GenotypeQuality
all individuals: 649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
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GenotypeQuality
all individuals: 35
bin: 2.5e0
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GenotypeQuality
all individuals: 40755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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MQ
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele num: 64344
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Other
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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FS
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QD
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MQRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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African
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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Latino
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African
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South Asian
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 3.823117114820951e-4
allele num: 15694
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.771929824561403e-5
allele num: 11400
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European (Non-Finnish)
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allele frequency: 4.665629860031104e-5
allele num: 64300
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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QD
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SIO_000300: 1.055e1

MQRankSum
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SIO_000300: 3.0e-2

BaseQRankSum
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SIO_000300: -1.432e0

GenotypeDepth
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variant carriers: 1

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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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
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African
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allele count: 11
allele frequency: 1.108870967741935e-3
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.557098813490704e-5
allele num: 64222
num of homozygotes: 0

South Asian
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DP
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -9.82e-1

ReadPosRankSum
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SIO_000300: 2.27e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

European (Non-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
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num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: -9.82e-1

InbreedingCoeff
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DP
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QD
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ClippingRankSum
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SIO_000300: 4.8e-2

ReadPosRankSum
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SIO_000300: 2.27e-1

FS
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SIO_000300: 5.26e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

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

South Asian
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allele num: 15608
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Latino
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele num: 64212
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
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DP
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QD
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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South Asian
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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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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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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QD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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QD
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African
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MQ
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DP
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MQRankSum
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VQSLOD
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VQSLOD
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FS
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MQ
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DP
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all individuals: 1335
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39644
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 676
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 679
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.76056338028169e-4
allele num: 11360
num of homozygotes: 0

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

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

African
type: Population
allele count: 12
allele frequency: 1.22274302017526e-3
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.25e-3
allele num: 14400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.720989519403267e-5
allele num: 63546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.54742e6

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeDepth
all individuals: 693
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 11
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 11336
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12305
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1931
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 67
bin: 4.75e1
variant carriers: 4