7-151065868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065868
    reference: chr 7
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1215C>T
  hgvsp: ENST00000568733.1:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.50C>T
  hgvsp: ENST00000460712.1:c.50C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000480907
  gene symbol: NUB1
  hgvsc: ENST00000480907.1:n.954C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1143C>T
  hgvsp: ENST00000355851.4:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1215C>T
  hgvsp: ENST00000413040.2:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1143C>T
  hgvsp: ENST00000566856.1:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.450C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp405Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-151065869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065869
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065869
    reference: chr 7
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1144A>G
  hgvsp: ENSP00000457628.1:p.Asn382Asp
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1216A>G
  hgvsp: ENSP00000454264.1:p.Asn406Asp
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.451A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1144A>G
  hgvsp: ENSP00000348110.4:p.Asn382Asp
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000480907
  gene symbol: NUB1
  hgvsc: ENST00000480907.1:n.955A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1216A>G
  hgvsp: ENSP00000398644.2:p.Asn406Asp
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.51A>G
  hgvsp: ENSP00000420344.1:p.Asn18Asp
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn406Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

7-151065883-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065883
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065883
    reference: chr 7
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000480907
  gene symbol: NUB1
  hgvsc: ENST00000480907.1:n.969G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1230G>T
  hgvsp: ENSP00000398644.2:p.Leu410Phe
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1158G>T
  hgvsp: ENSP00000457628.1:p.Leu386Phe
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.465G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.65G>T
  hgvsp: ENSP00000420344.1:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1158G>T
  hgvsp: ENSP00000348110.4:p.Leu386Phe
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1230G>T
  hgvsp: ENSP00000454264.1:p.Leu410Phe
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu410Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

7-151065886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065886
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065886
    reference: chr 7
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1161G>A
  hgvsp: ENST00000566856.1:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1233G>A
  hgvsp: ENST00000413040.2:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1233G>A
  hgvsp: ENST00000568733.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.68G>A
  hgvsp: ENST00000460712.1:c.68G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000480907
  gene symbol: NUB1
  hgvsc: ENST00000480907.1:n.972G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1161G>A
  hgvsp: ENST00000355851.4:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.468G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly411Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

7-151065905-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065905
    reference: chr 7
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1180C>G
  hgvsp: ENSP00000457628.1:p.Arg394Gly
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1252C>G
  hgvsp: ENSP00000454264.1:p.Arg418Gly
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1180C>G
  hgvsp: ENSP00000348110.4:p.Arg394Gly
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1252C>G
  hgvsp: ENSP00000398644.2:p.Arg418Gly
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.87C>G
  hgvsp: ENSP00000420344.1:p.Arg30Gly
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.487C>G
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg418Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-151065907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065907
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065907
    reference: chr 7
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1254G>T
  hgvsp: ENST00000413040.2:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1182G>T
  hgvsp: ENST00000566856.1:c.1182G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.89G>T
  hgvsp: ENST00000460712.1:c.89G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1182G>T
  hgvsp: ENST00000355851.4:c.1182G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.489G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1254G>T
  hgvsp: ENST00000568733.1:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg418Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-151065913-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065913
    reference: chr 7
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1188C>A
  hgvsp: ENST00000355851.4:c.1188C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.95C>A
  hgvsp: ENST00000460712.1:c.95C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1188C>A
  hgvsp: ENST00000566856.1:c.1188C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1260C>A
  hgvsp: ENST00000413040.2:c.1260C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.495C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1260C>A
  hgvsp: ENST00000568733.1:c.1260C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly420Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

7-151065919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065919
    reference: chr 7
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.501G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1194G>A
  hgvsp: ENST00000566856.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.101G>A
  hgvsp: ENST00000460712.1:c.101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1194G>A
  hgvsp: ENST00000355851.4:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1266G>A
  hgvsp: ENST00000568733.1:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.4G>A
  hgvsp: ENST00000480714.1:c.4G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1266G>A
  hgvsp: ENST00000413040.2:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg422Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-151065921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065921
    reference: chr 7
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.103C>T
  hgvsp: ENSP00000420344.1:p.Ala35Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1196C>T
  hgvsp: ENSP00000457628.1:p.Ala399Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.6C>T
  hgvsp: ENSP00000419679.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1196C>T
  hgvsp: ENSP00000348110.4:p.Ala399Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1268C>T
  hgvsp: ENSP00000454264.1:p.Ala423Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1268C>T
  hgvsp: ENSP00000398644.2:p.Ala423Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.503C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala423Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-151065922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065922
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065922
    reference: chr 7
allele count: 2
allele frequency: 1.657687525901368e-5
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.504G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1197G>A
  hgvsp: ENST00000355851.4:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.104G>A
  hgvsp: ENST00000460712.1:c.104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1197G>A
  hgvsp: ENST00000566856.1:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1269G>A
  hgvsp: ENST00000413040.2:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1269G>A
  hgvsp: ENST00000568733.1:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.7G>A
  hgvsp: ENST00000480714.1:c.7G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala423Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

7-151065924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065924
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065924
    reference: chr 7
allele count: 3
allele frequency: 2.486861083939851e-5
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.506G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1271G>A
  hgvsp: ENSP00000454264.1:p.Cys424Tyr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1271G>A
  hgvsp: ENSP00000398644.2:p.Cys424Tyr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1199G>A
  hgvsp: ENSP00000457628.1:p.Cys400Tyr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1199G>A
  hgvsp: ENSP00000348110.4:p.Cys400Tyr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.106G>A
  hgvsp: ENSP00000420344.1:p.Cys36Tyr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.9G>A
  hgvsp: ENSP00000419679.1:p.Cys4Tyr
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys424Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

7-151065929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065929
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065929
    reference: chr 7
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.111G>A
  hgvsp: ENSP00000420344.1:p.Gly38Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1204G>A
  hgvsp: ENSP00000348110.4:p.Gly402Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1276G>A
  hgvsp: ENSP00000454264.1:p.Gly426Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.14G>A
  hgvsp: ENSP00000419679.1:p.Gly6Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1204G>A
  hgvsp: ENSP00000457628.1:p.Gly402Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1276G>A
  hgvsp: ENSP00000398644.2:p.Gly426Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.511G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly426Arg
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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

7-151065934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065934
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065934
    reference: chr 7
allele count: 3
allele frequency: 2.488470088589535e-5
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.516C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.19C>T
  hgvsp: ENST00000480714.1:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1209C>T
  hgvsp: ENST00000566856.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1209C>T
  hgvsp: ENST00000355851.4:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.116C>T
  hgvsp: ENST00000460712.1:c.116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1281C>T
  hgvsp: ENST00000568733.1:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1281C>T
  hgvsp: ENST00000413040.2:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn427Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-151065935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065935
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065935
    reference: chr 7
allele count: 4
allele frequency: 3.318070210365652e-5
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1210G>A
  hgvsp: ENSP00000348110.4:p.Val404Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1282G>A
  hgvsp: ENSP00000398644.2:p.Val428Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1282G>A
  hgvsp: ENSP00000454264.1:p.Val428Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.117G>A
  hgvsp: ENSP00000420344.1:p.Val40Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.517G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.20G>A
  hgvsp: ENSP00000419679.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1210G>A
  hgvsp: ENSP00000457628.1:p.Val404Met
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val428Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

7-151065945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065945
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065945
    reference: chr 7
allele count: 2
allele frequency: 1.660826094899603e-5
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1220C>T
  hgvsp: ENSP00000457628.1:p.Ala407Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.127C>T
  hgvsp: ENSP00000420344.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1292C>T
  hgvsp: ENSP00000454264.1:p.Ala431Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.527C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.30C>T
  hgvsp: ENSP00000419679.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1220C>T
  hgvsp: ENSP00000348110.4:p.Ala407Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1292C>T
  hgvsp: ENSP00000398644.2:p.Ala431Val
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala431Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

7-151065946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065946
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065946
    reference: chr 7
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1221G>A
  hgvsp: ENST00000566856.1:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.528G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1293G>A
  hgvsp: ENST00000568733.1:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.128G>A
  hgvsp: ENST00000460712.1:c.128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1293G>A
  hgvsp: ENST00000413040.2:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.31G>A
  hgvsp: ENST00000480714.1:c.31G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1221G>A
  hgvsp: ENST00000355851.4:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala431Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

7-151065946-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065946
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065946
    reference: chr 7
allele count: 5
allele frequency: 4.152479029980898e-5
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.528G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1221G>T
  hgvsp: ENST00000566856.1:c.1221G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1293G>T
  hgvsp: ENST00000413040.2:c.1293G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1221G>T
  hgvsp: ENST00000355851.4:c.1221G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.31G>T
  hgvsp: ENST00000480714.1:c.31G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.128G>T
  hgvsp: ENST00000460712.1:c.128G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1293G>T
  hgvsp: ENST00000568733.1:c.1293G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala431Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-151065947-G-GCCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065951
    reference: chr 7
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: GCCAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1295_1298dupCCAC
  hgvsp: ENSP00000398644.2:p.Ile435SerfsTer55
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.130_133dupCCAC
  hgvsp: ENSP00000420344.1:p.Ile47SerfsTer20
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1223_1226dupCCAC
  hgvsp: ENSP00000457628.1:p.Ile411SerfsTer55
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1223_1226dupCCAC
  hgvsp: ENSP00000348110.4:p.Ile411SerfsTer53
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.33_36dupCCAC
  hgvsp: ENSP00000419679.1:p.Ile15SerfsTer53
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1295_1298dupCCAC
  hgvsp: ENSP00000454264.1:p.Ile435SerfsTer53
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.530_533dupCCAC
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile435SerfsTer53
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-151065949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065949
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065949
    reference: chr 7
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1296C>T
  hgvsp: ENST00000413040.2:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.34C>T
  hgvsp: ENST00000480714.1:c.34C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1224C>T
  hgvsp: ENST00000566856.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.531C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.131C>T
  hgvsp: ENST00000460712.1:c.131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1296C>T
  hgvsp: ENST00000568733.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1224C>T
  hgvsp: ENST00000355851.4:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala432Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-151065954-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065954
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065954
    reference: chr 7
allele count: 4
allele frequency: 3.32667997338656e-5
allele num: 120240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.136A>C
  hgvsp: ENSP00000420344.1:p.His46Pro
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.39A>C
  hgvsp: ENSP00000419679.1:p.His14Pro
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1301A>C
  hgvsp: ENSP00000398644.2:p.His434Pro
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.536A>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1301A>C
  hgvsp: ENSP00000454264.1:p.His434Pro
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1229A>C
  hgvsp: ENSP00000457628.1:p.His410Pro
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1229A>C
  hgvsp: ENSP00000348110.4:p.His410Pro
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His434Pro
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

7-151065955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065955
    reference: chr 7
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1302T>C
  hgvsp: ENST00000568733.1:c.1302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1302T>C
  hgvsp: ENST00000413040.2:c.1302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.40T>C
  hgvsp: ENST00000480714.1:c.40T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.537T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1230T>C
  hgvsp: ENST00000566856.1:c.1230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.137T>C
  hgvsp: ENST00000460712.1:c.137T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1230T>C
  hgvsp: ENST00000355851.4:c.1230T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His434His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

7-151065960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065960
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065960
    reference: chr 7
allele count: 1
allele frequency: 8.337363058811759e-6
allele num: 119942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1307C>T
  hgvsp: ENSP00000454264.1:p.Thr436Ile
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1235C>T
  hgvsp: ENSP00000457628.1:p.Thr412Ile
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.45C>T
  hgvsp: ENSP00000419679.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.542C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1307C>T
  hgvsp: ENSP00000398644.2:p.Thr436Ile
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.142C>T
  hgvsp: ENSP00000420344.1:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1235C>T
  hgvsp: ENSP00000348110.4:p.Thr412Ile
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr436Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-151065965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065965
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065965
    reference: chr 7
allele count: 2
allele frequency: 1.671625823275718e-5
allele num: 119644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.547C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1312C>T
  hgvsp: ENSP00000398644.2:p.Arg438Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1240C>T
  hgvsp: ENSP00000457628.1:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.50C>T
  hgvsp: ENSP00000419679.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1312C>T
  hgvsp: ENSP00000454264.1:p.Arg438Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1240C>T
  hgvsp: ENSP00000348110.4:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.147C>T
  hgvsp: ENSP00000420344.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg438Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-151065967-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065967
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065968
    reference: chr 7
allele count: 1
allele frequency: 8.368200836820084e-6
allele num: 119500
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1315dupA
  hgvsp: ENSP00000398644.2:p.Arg439LysfsTer50
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.150dupA
  hgvsp: ENSP00000420344.1:p.Arg51LysfsTer15
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.550dupA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.53dupA
  hgvsp: ENSP00000419679.1:p.Arg19LysfsTer48
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1315dupA
  hgvsp: ENSP00000454264.1:p.Arg439LysfsTer48
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1243dupA
  hgvsp: ENSP00000348110.4:p.Arg415LysfsTer48
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1243dupA
  hgvsp: ENSP00000457628.1:p.Arg415LysfsTer50
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg439LysfsTer48
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-151065971-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065971
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065971
    reference: chr 7
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1318G>C
  hgvsp: ENSP00000398644.2:p.Glu440Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1246G>C
  hgvsp: ENSP00000457628.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.56G>C
  hgvsp: ENSP00000419679.1:p.Glu20Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1246G>C
  hgvsp: ENSP00000348110.4:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.153G>C
  hgvsp: ENSP00000420344.1:p.Glu52Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1318G>C
  hgvsp: ENSP00000454264.1:p.Glu440Gln
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.553G>C
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu440Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-151065991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065991
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065991
    reference: chr 7
allele count: 5
allele frequency: 4.264974324854565e-5
allele num: 117234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.573C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+18C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

7-151065998-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065998
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065998
    reference: chr 7
allele count: 1
allele frequency: 8.578683686775101e-6
allele num: 116568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+25T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.580T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+25T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+25T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+25T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+25T>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+25T>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11856
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-151065999-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151065999
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151065999
    reference: chr 7
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.581C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+26C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+26C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+26C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+26C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+26C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+26C>G
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-151066001-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151066001
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151066001
    reference: chr 7
allele count: 1
allele frequency: 8.612670961518585e-6
allele num: 116108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+28C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+28C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+28C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.583C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+28C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+28C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+28C>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
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: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-151066001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151066001
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151066001
    reference: chr 7
allele count: 2
allele frequency: 1.722534192303717e-5
allele num: 116108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.583C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+28C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+28C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+28C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+28C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+28C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+28C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-151066002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151066002
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151066002
    reference: chr 7
allele count: 1
allele frequency: 8.617272460920669e-6
allele num: 116046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.584T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+29T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+29T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+29T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+29T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+29T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+29T>C
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-151066010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151066010
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151066010
    reference: chr 7
allele count: 2
allele frequency: 1.751313485113835e-5
allele num: 114200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+37G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+37G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.592G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+37G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+37G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+37G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+37G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-151066017-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151066017
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151066016
    reference: chr 7
allele count: 23
allele frequency: 2.063076315883894e-4
allele num: 111484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1320+51delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1320+51delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000013374
  ensembl transcript: ENST00000497987
  gene symbol: NUB1
  hgvsc: ENST00000497987.1:n.606delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.155+51delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1248+51delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1248+51delA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.58+51delA
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14550
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CA
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

7-151071134-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071134
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071134
    reference: chr 7
allele count: 1
allele frequency: 5.00600720865038e-5
allele num: 19976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1249-49T>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1800T>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1321-49T>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1249-49T>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1321-49T>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.59-49T>G
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

7-151071178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071178
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071178
    reference: chr 7
allele count: 1
allele frequency: 4.320774282751469e-5
allele num: 23144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1321-5T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.59-5T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1321-5T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1249-5T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1756T>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1249-5T>C
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1321-5T>C
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

7-151071185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071185
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071185
    reference: chr 7
allele count: 1
allele frequency: 4.160772239327619e-5
allele num: 24034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1749A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1251A>G
  hgvsp: ENST00000355851.4:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1323A>G
  hgvsp: ENST00000413040.2:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1251A>G
  hgvsp: ENST00000566856.1:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.61A>G
  hgvsp: ENST00000480714.1:c.61A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1323A>G
  hgvsp: ENST00000568733.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1323A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-151071211-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071211
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071209
    reference: chr 7
allele count: 1
allele frequency: 3.747002398081535e-5
allele num: 26688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1719_156-1718delGA
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.91_92delGA
  hgvsp: ENSP00000419679.1:p.Lys32GlufsTer34
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1281_1282delGA
  hgvsp: ENSP00000457628.1:p.Lys428GlufsTer36
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1353_1354delGA
  hgvsp: ENSP00000454264.1:p.Lys452GlufsTer34
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1281_1282delGA
  hgvsp: ENSP00000348110.4:p.Lys428GlufsTer34
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1353_1354delGA
  hgvsp: ENSP00000398644.2:p.Lys452GlufsTer36
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys452GlufsTer34
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: AAG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-151071215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071215
    reference: chr 7
allele count: 1
allele frequency: 3.698498409645684e-5
allele num: 27038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1281G>A
  hgvsp: ENST00000355851.4:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1281G>A
  hgvsp: ENST00000566856.1:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1353G>A
  hgvsp: ENST00000413040.2:c.1353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1719G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1353G>A
  hgvsp: ENST00000568733.1:c.1353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.91G>A
  hgvsp: ENST00000480714.1:c.91G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu451Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-151071225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071225
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071225
    reference: chr 7
allele count: 15
allele frequency: 5.405795012253135e-4
allele num: 27748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1709C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.101C>T
  hgvsp: ENSP00000419679.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1291C>T
  hgvsp: ENSP00000457628.1:p.Arg431Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1363C>T
  hgvsp: ENSP00000398644.2:p.Arg455Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1291C>T
  hgvsp: ENSP00000348110.4:p.Arg431Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1363C>T
  hgvsp: ENSP00000454264.1:p.Arg455Cys
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27467
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg455Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-151071226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071226
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071226
    reference: chr 7
allele count: 1
allele frequency: 3.587572648346129e-5
allele num: 27874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1364G>A
  hgvsp: ENSP00000454264.1:p.Arg455His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1708G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1292G>A
  hgvsp: ENSP00000457628.1:p.Arg431His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1292G>A
  hgvsp: ENSP00000348110.4:p.Arg431His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.102G>A
  hgvsp: ENSP00000419679.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1364G>A
  hgvsp: ENSP00000398644.2:p.Arg455His
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg455His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-151071229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071229
    reference: chr 7
allele count: 2
allele frequency: 7.050694493407601e-5
allele num: 28366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1367G>A
  hgvsp: ENSP00000398644.2:p.Arg456His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1295G>A
  hgvsp: ENSP00000457628.1:p.Arg432His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1295G>A
  hgvsp: ENSP00000348110.4:p.Arg432His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.105G>A
  hgvsp: ENSP00000419679.1:p.Arg36His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1705G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1367G>A
  hgvsp: ENSP00000454264.1:p.Arg456His
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28327
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg456His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/7-151071233-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071233
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071233
    reference: chr 7
allele count: 4
allele frequency: 1.390143879891569e-4
allele num: 28774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1371C>A
  hgvsp: ENST00000413040.2:c.1371C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1299C>A
  hgvsp: ENST00000355851.4:c.1299C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.109C>A
  hgvsp: ENST00000480714.1:c.109C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1371C>A
  hgvsp: ENST00000568733.1:c.1371C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1299C>A
  hgvsp: ENST00000566856.1:c.1299C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1701C>A
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu457Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

7-151071233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071233
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071233
    reference: chr 7
allele count: 2
allele frequency: 6.950719399457844e-5
allele num: 28774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1299C>T
  hgvsp: ENST00000566856.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1299C>T
  hgvsp: ENST00000355851.4:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1701C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1371C>T
  hgvsp: ENST00000568733.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1371C>T
  hgvsp: ENST00000413040.2:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.109C>T
  hgvsp: ENST00000480714.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu457Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-151071234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071234
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071234
    reference: chr 7
allele count: 2
allele frequency: 6.926646810279144e-5
allele num: 28874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1700G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.110G>A
  hgvsp: ENSP00000419679.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1372G>A
  hgvsp: ENSP00000454264.1:p.Glu458Lys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1372G>A
  hgvsp: ENSP00000398644.2:p.Glu458Lys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1300G>A
  hgvsp: ENSP00000348110.4:p.Glu434Lys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1300G>A
  hgvsp: ENSP00000457628.1:p.Glu434Lys
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15616
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Glu458Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

7-151071251-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071251
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071250
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 29554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1392delA
  hgvsp: ENSP00000398644.2:p.Met466TrpfsTer21
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1320delA
  hgvsp: ENSP00000348110.4:p.Met442TrpfsTer23
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1392delA
  hgvsp: ENSP00000454264.1:p.Met466TrpfsTer23
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1320delA
  hgvsp: ENSP00000457628.1:p.Met442TrpfsTer21
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.130delA
  hgvsp: ENSP00000419679.1:p.Met46TrpfsTer23
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1680delA
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29119
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met466TrpfsTer23
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: GA
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-151071257-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071257
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071257
    reference: chr 7
allele count: 1
allele frequency: 3.376781252110489e-5
allele num: 29614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1395G>T
  hgvsp: ENST00000413040.2:c.1395G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1395G>T
  hgvsp: ENST00000568733.1:c.1395G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.133G>T
  hgvsp: ENST00000480714.1:c.133G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1677G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1323G>T
  hgvsp: ENST00000566856.1:c.1323G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1323G>T
  hgvsp: ENST00000355851.4:c.1323G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly465Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-151071271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071271
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071271
    reference: chr 7
allele count: 10
allele frequency: 3.431944539776237e-4
allele num: 29138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1409C>T
  hgvsp: ENSP00000398644.2:p.Thr470Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1663C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1409C>T
  hgvsp: ENSP00000454264.1:p.Thr470Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.147C>T
  hgvsp: ENSP00000419679.1:p.Thr50Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1337C>T
  hgvsp: ENSP00000457628.1:p.Thr446Met
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1337C>T
  hgvsp: ENSP00000348110.4:p.Thr446Met
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18438
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18393
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr470Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-151071272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071272
    reference: chr 7
allele count: 2
allele frequency: 6.86766018817389e-5
allele num: 29122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1410G>A
  hgvsp: ENST00000413040.2:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.148G>A
  hgvsp: ENST00000480714.1:c.148G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1662G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1338G>A
  hgvsp: ENST00000355851.4:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1338G>A
  hgvsp: ENST00000566856.1:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1410G>A
  hgvsp: ENST00000568733.1:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26278
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9887
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr470Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-151071278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071278
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 28788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1344G>A
  hgvsp: ENST00000566856.1:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1416G>A
  hgvsp: ENST00000568733.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1656G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.154G>A
  hgvsp: ENST00000480714.1:c.154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1344G>A
  hgvsp: ENST00000355851.4:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1416G>A
  hgvsp: ENST00000413040.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24529
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala472Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-151071296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071296
    reference: chr 7
allele count: 4
allele frequency: 1.507386192342478e-4
allele num: 26536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1362C>T
  hgvsp: ENST00000355851.4:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+9C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.172C>T
  hgvsp: ENST00000480714.1:c.172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1434C>T
  hgvsp: ENST00000568733.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1638C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+9C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15731
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28361
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13716
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
hgvs: p.His478His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-151071297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071297
    reference: chr 7
allele count: 1
allele frequency: 3.802570537683474e-5
allele num: 26298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1363G>A
  hgvsp: ENSP00000348110.4:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.173G>A
  hgvsp: ENSP00000419679.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+10G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1435G>A
  hgvsp: ENSP00000454264.1:p.Ala479Thr
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+10G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1637G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala479Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

7-151071305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071305
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071305
    reference: chr 7
allele count: 2
allele frequency: 7.996161842315688e-5
allele num: 25012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1371C>T
  hgvsp: ENST00000355851.4:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1629C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.181C>T
  hgvsp: ENST00000480714.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+18C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1443C>T
  hgvsp: ENST00000568733.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31065
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser481Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

7-151071324-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071324
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071324
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 22562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.200C>G
  hgvsp: ENSP00000419679.1:p.Leu68Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+37C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1610C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+37C>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1390C>G
  hgvsp: ENSP00000348110.4:p.Leu464Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1462C>G
  hgvsp: ENSP00000454264.1:p.Leu488Val
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33963
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33005
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8456
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu488Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-151071416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071416
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071416
    reference: chr 7
allele count: 2
allele frequency: 1.306677120083627e-4
allele num: 15306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+87G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+87G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1518G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+129G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.292G>A
  hgvsp: ENST00000480714.1:c.292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+129G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro98Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-151071417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071417
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071417
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 15252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+88G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+88G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+130G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+130G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.293G>T
  hgvsp: ENSP00000419679.1:p.Gly99Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1517G>T
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly99Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-151071431-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071431
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071431
    reference: chr 7
allele count: 1
allele frequency: 6.960879855213699e-5
allele num: 14366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.307G>C
  hgvsp: ENSP00000419679.1:p.Trp103Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+144G>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+144G>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+102G>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1503G>C
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+102G>C
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp103Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

7-151071433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071433
    reference: chr 7
allele count: 5
allele frequency: 3.502381619501261e-4
allele num: 14276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+104C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+104C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+146C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.309C>T
  hgvsp: ENSP00000419679.1:p.Ala104Val
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+146C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1501C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala104Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-151071439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071439
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071439
    reference: chr 7
allele count: 1
allele frequency: 7.26321905868681e-5
allele num: 13768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+152C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+110C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1495C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.315C>T
  hgvsp: ENSP00000419679.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+152C>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+110C>T
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro106Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-151071440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071440
    reference: chr 7
allele count: 53
allele frequency: 3.854545454545455e-3
allele num: 13750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+111G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+153G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1494G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.316G>A
  hgvsp: ENST00000480714.1:c.316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+111G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+153G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro106Pro
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

7-151071447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071447
    reference: chr 7
allele count: 3
allele frequency: 2.296035512015919e-4
allele num: 13066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+160G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+160G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1487G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+118G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+118G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.323G>A
  hgvsp: ENSP00000419679.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 313
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5946
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly109Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

7-151071471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071471
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071471
    reference: chr 7
allele count: 4
allele frequency: 3.641660597232338e-4
allele num: 10984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+142G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.347G>A
  hgvsp: ENSP00000419679.1:p.Gly117Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+184G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1463G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+142G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+184G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly117Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-151071482-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151071482
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151071482
    reference: chr 7
allele count: 1
allele frequency: 1.061120543293718e-4
allele num: 9424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1467+153C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1353+195C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1425+195C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000419679
  ensembl transcript: ENST00000480714
  gene symbol: NUB1
  hgvsc: ENST00000480714.1:c.358C>A
  hgvsp: ENST00000480714.1:c.358C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-1452C>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1395+153C>A
  variant of: http://identifiers.org/hgnc/17623
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro120Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

7-151072891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072891
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072891
    reference: chr 7
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-43A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1468-43A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1396-43A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1354-43A>G
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1426-43A>G
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

7-151072892-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072892
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072892
    reference: chr 7
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1354-42G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1468-42G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1426-42G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-42G>T
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1396-42G>T
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-151072908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072908
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072908
    reference: chr 7
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1426-26G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1396-26G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1354-26G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1468-26G>A
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-26G>A
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-151072919-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072918
    reference: chr 7
allele count: 3
allele frequency: 2.484677820109326e-5
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1468-13delC
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1426-13delC
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1396-13delC
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.156-13delC
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1354-13delC
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47169
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-151072961-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072961
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1381T>A
  hgvsp: ENSP00000457628.1:p.Trp461Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1453T>A
  hgvsp: ENSP00000398644.2:p.Trp485Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1495T>A
  hgvsp: ENSP00000454264.1:p.Trp499Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1423T>A
  hgvsp: ENSP00000348110.4:p.Trp475Arg
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.183T>A
  hgvsp: ENSP00000420344.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp499Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-151072970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072970
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072970
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.192G>C
  hgvsp: ENSP00000420344.1:p.Asp65His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1462G>C
  hgvsp: ENSP00000398644.2:p.Asp488His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1504G>C
  hgvsp: ENSP00000454264.1:p.Asp502His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1432G>C
  hgvsp: ENSP00000348110.4:p.Asp478His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1390G>C
  hgvsp: ENSP00000457628.1:p.Asp464His
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp502His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-151072987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072987
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072987
    reference: chr 7
allele count: 23
allele frequency: 1.904509547389166e-4
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1479C>T
  hgvsp: ENST00000413040.2:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1449C>T
  hgvsp: ENST00000355851.4:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.209C>T
  hgvsp: ENST00000460712.1:c.209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1407C>T
  hgvsp: ENST00000566856.1:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1521C>T
  hgvsp: ENST00000568733.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr507Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-151072988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072988
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072988
    reference: chr 7
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1480G>A
  hgvsp: ENSP00000398644.2:p.Asp494Asn
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1408G>A
  hgvsp: ENSP00000457628.1:p.Asp470Asn
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1522G>A
  hgvsp: ENSP00000454264.1:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1450G>A
  hgvsp: ENSP00000348110.4:p.Asp484Asn
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.210G>A
  hgvsp: ENSP00000420344.1:p.Asp71Asn
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp508Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-151072992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072992
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072992
    reference: chr 7
allele count: 3
allele frequency: 2.484142887898912e-5
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1484A>G
  hgvsp: ENSP00000398644.2:p.Asn495Ser
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1454A>G
  hgvsp: ENSP00000348110.4:p.Asn485Ser
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1526A>G
  hgvsp: ENSP00000454264.1:p.Asn509Ser
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.214A>G
  hgvsp: ENSP00000420344.1:p.Asn72Ser
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1412A>G
  hgvsp: ENSP00000457628.1:p.Asn471Ser
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn509Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-151072994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072994
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072994
    reference: chr 7
allele count: 9
allele frequency: 7.452428663696736e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1486C>T
  hgvsp: ENSP00000398644.2:p.Arg496Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1414C>T
  hgvsp: ENSP00000457628.1:p.Arg472Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1528C>T
  hgvsp: ENSP00000454264.1:p.Arg510Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.216C>T
  hgvsp: ENSP00000420344.1:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1456C>T
  hgvsp: ENSP00000348110.4:p.Arg486Cys
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg510Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

7-151072995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151072995
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151072995
    reference: chr 7
allele count: 67
allele frequency: 5.548010996654632e-4
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000348110
  ensembl transcript: ENST00000355851
  gene symbol: NUB1
  hgvsc: ENST00000355851.4:c.1457G>A
  hgvsp: ENSP00000348110.4:p.Arg486His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187260
  ensembl transcript: ENST00000463000
  gene symbol: WDR86
  hgvsc: ENST00000463000.1:n.1381C>T
  variant of: http://identifiers.org/hgnc/28020
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000398644
  ensembl transcript: ENST00000413040
  gene symbol: NUB1
  hgvsc: ENST00000413040.2:c.1487G>A
  hgvsp: ENSP00000398644.2:p.Arg496His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000420344
  ensembl transcript: ENST00000460712
  gene symbol: NUB1
  hgvsc: ENST00000460712.1:c.217G>A
  hgvsp: ENSP00000420344.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000454264
  ensembl transcript: ENST00000568733
  gene symbol: NUB1
  hgvsc: ENST00000568733.1:c.1529G>A
  hgvsp: ENSP00000454264.1:p.Arg510His
  variant of: http://identifiers.org/hgnc/17623
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000013374
  ensembl protein: ENSP00000457628
  ensembl transcript: ENST00000566856
  gene symbol: NUB1
  hgvsc: ENST00000566856.1:c.1415G>A
  hgvsp: ENSP00000457628.1:p.Arg472His
  variant of: http://identifiers.org/hgnc/17623
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg510His
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8510
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.265e0

ReadPosRankSum
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SIO_000300: 8.2e-2

ClippingRankSum
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SIO_000300: 5.25e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

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

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

GenotypeQuality
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variant carriers: 1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.172e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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SIO_000300: 7.65e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-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 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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East Asian
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allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
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

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.762936e6

ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 2.553e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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 count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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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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Latino
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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 frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.21300339640951e-4
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
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Other
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African
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South Asian
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QD
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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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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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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Latino
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allele num: 11576
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European (Finnish)
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num of homozygotes: 0

FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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allele num: 66658
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East Asian
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Other
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European (Finnish)
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Latino
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 3.061849357011635e-4
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 1.760927e6

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
bin: 3.75e1
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GenotypeQuality
all individuals: 878
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 6.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.760295e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
all individuals: 8468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.759174e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005645306588193e-5
allele num: 66604
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.759033e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 1.485e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 40250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 2.308e0

DP
type: SiteQuality
SIO_000300: 1.756146e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 328
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variant carriers: 0

GenotypeQuality
all individuals: 40268
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variant carriers: 0

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

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 8444
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.575e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.755246e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.326007959854646e-4
allele num: 11558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.755246e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 2614
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.578e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.411e0

DP
type: SiteQuality
SIO_000300: 1.754758e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 7.641e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.753821e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8410
bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51304269338388e-5
allele num: 66474
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.750658e6

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 9.077999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40001
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
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GenotypeQuality
all individuals: 2597
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8402
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GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.554e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.749458e6

GenotypeQuality
all individuals: 2163
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8361
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 859
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

DP
type: SiteQuality
SIO_000300: 1.743494e6

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

FS
type: SiteQuality
SIO_000300: 1.224e0

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
all individuals: 2570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8253
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variant carriers: 0

GenotypeQuality
all individuals: 2145
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 631
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variant carriers: 0

GenotypeQuality
all individuals: 3095
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variant carriers: 2

GenotypeQuality
all individuals: 1570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38936
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variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019961948479449e-5
allele num: 66226
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.735269e6

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 9.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 1554
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variant carriers: 0

GenotypeQuality
all individuals: 2123
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8219
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 1.729189e6

QD
type: SiteQuality
SIO_000300: 9.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.279829188646068e-5
allele num: 15924
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.199e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.929e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 1.722926e6

GenotypeQuality
all individuals: 1311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 7269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
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variant carriers: 0

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 573
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.305142260506395e-4
allele num: 15324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07181913128955e-5
allele num: 65108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.628327e6

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.126e0

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1316
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variant carriers: 0

GenotypeQuality
all individuals: 2073
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variant carriers: 0

GenotypeQuality
all individuals: 6755
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variant carriers: 0

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54397233201581e-5
allele num: 64768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.558812e6

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 8.85e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1830
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variant carriers: 0

GenotypeQuality
all individuals: 1313
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GenotypeQuality
all individuals: 2052
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3038
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.598046978094485e-5
allele num: 15156
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.171999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.547278e6

FS
type: SiteQuality
SIO_000300: 4.741e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548754801139884e-5
allele num: 64568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.513364e6

FS
type: SiteQuality
SIO_000300: 7.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

GenotypeQuality
all individuals: 1656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25660
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.418964683115626e-4
allele num: 8268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

DP
type: SiteQuality
SIO_000300: 1.513364e6

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

GenotypeQuality
all individuals: 128
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 548
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.650704974727321e-5
allele num: 15036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.497633e6

VQSLOD
type: SiteQuality
SIO_000300: -3.514e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 15603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
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: 2
allele frequency: 3.141788934619372e-5
allele num: 63658
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.373662e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

FS
type: SiteQuality
SIO_000300: 1.463e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.757e0

GenotypeQuality
all individuals: 11134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4773
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.446288023824718e-3
allele num: 9402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.421e0

QD
type: SiteQuality
SIO_000300: 1.117e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.318423e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.768e0

FS
type: SiteQuality
SIO_000300: 3.7855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

QD
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.729e1

DP
type: SiteQuality
SIO_000300: 3.30744e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

VQSLOD
type: SiteQuality
SIO_000300: -5.235e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
all individuals: 392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.421262080727686e-4
allele num: 7036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.219e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

DP
type: SiteQuality
SIO_000300: 4.43005e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.924646781789639e-4
allele num: 2548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

QD
type: SiteQuality
SIO_000300: 6.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 4.68386e5

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.2531328320802e-4
allele num: 7980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.888e1

FS
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.063e1

DP
type: SiteQuality
SIO_000300: 5.40272e5

GenotypeQuality
all individuals: 19631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.8976465013426e-5
allele num: 12662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.711e0

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 5.48764e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 24321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17464
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.03030303030303e-4
allele num: 13200
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.926115581565472e-3
allele num: 2734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.499375156210947e-4
allele num: 8002
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 5.67475e5

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.532389273877674e-5
allele num: 13276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 5.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.35e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.219e-1

DP
type: SiteQuality
SIO_000300: 5.68835e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25658
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.246261216350947e-4
allele num: 8024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13650
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.319261213720317e-3
allele num: 758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.422e0

DP
type: SiteQuality
SIO_000300: 5.77315e5

QD
type: SiteQuality
SIO_000300: 6.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.593e0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10817
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1979
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.866561559409488e-4
allele num: 13954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

QD
type: SiteQuality
SIO_000300: 1.065e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 3.471e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 5.85501e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 653
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13954
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.243781094527363e-4
allele num: 8040
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.568879371877231e-4
allele num: 2802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 5.85501e5

FS
type: SiteQuality
SIO_000300: 3.471e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 964
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.426533523537803e-4
allele num: 14020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 7.569e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.044e0

QD
type: SiteQuality
SIO_000300: 1.693e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 5.85988e5

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 5.33e0

DP
type: SiteQuality
SIO_000300: 5.87257e5

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.02e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 578
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

Latino
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: 6.885155604516663e-5
allele num: 14524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 5.84407e5

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

GenotypeQuality
all individuals: 24396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 9846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 4.936530324400564e-4
allele num: 14180
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.717472118959108e-4
allele num: 8070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1042
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.64602e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.412229911029516e-4
allele num: 14162
num of homozygotes: 0

Latino
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: 2768
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 5.64093e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 22947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9703
bin: 6.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 5.5086e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1018
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1856
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.763688760806916e-3
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 4.85517e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1924
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.18464560484531e-5
allele num: 12218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
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SIO_000300: 1.585e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.67e-2

DP
type: SiteQuality
SIO_000300: 4.81772e5

FS
type: SiteQuality
SIO_000300: 8.483000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.765848490199541e-4
allele num: 11326
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: -1.423e0

DP
type: SiteQuality
SIO_000300: 4.54634e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.135e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.93078e5

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.564760194921775e-4
allele num: 7798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

DP
type: SiteQuality
SIO_000300: 2.0685e5

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
all individuals: 2509
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.05663e5

VQSLOD
type: SiteQuality
SIO_000300: -1.775e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 388
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.231146809460062e-4
allele num: 4482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.91782e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.165e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 5602
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.294330830960394e-4
allele num: 7726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.694835680751174e-3
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.275e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

DP
type: SiteQuality
SIO_000300: 1.90581e5

QD
type: SiteQuality
SIO_000300: 1.292e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.43e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 368
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.30718954248366e-4
allele num: 7650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

FS
type: SiteQuality
SIO_000300: 2.372e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.203079884504331e-3
allele num: 4156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
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Latino
type: Population
allele count: 1
allele frequency: 4.385964912280702e-3
allele num: 228
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 6.019366657942947e-3
allele num: 7642
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 51
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.043126684636119e-4
allele num: 7420
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.12e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3168
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

African
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allele count: 4
allele frequency: 7.142857142857143e-3
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.919e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 482
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 170
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South Asian
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allele num: 5362
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 3.648051e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
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SIO_000300: 1.63e0

InbreedingCoeff
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SIO_000300: 6.2e-3

ReadPosRankSum
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SIO_000300: -1.674e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.605e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.371e0

DP
type: SiteQuality
SIO_000300: 3.648234e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.654e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 1073
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.814e0

QD
type: SiteQuality
SIO_000300: 1.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.841e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.650898e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
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Other
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Latino
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African
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South Asian
type: Population
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
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African
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allele frequency: 1.020408163265306e-4
allele num: 9800
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.836734693877551e-3
allele num: 9800
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
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Other
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European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
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European (Finnish)
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allele num: 6614
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East Asian
type: Population
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num of homozygotes: 0

DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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African
type: Population
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

African
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South Asian
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 3.651768e6

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.345e1

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

GenotypeQuality
all individuals: 1072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47162
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.043357291908185e-3
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 3.652288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.175e1