http://identifiers.org/exac.variant/21-44475868-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475868
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475868
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 5132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.668G>T
  hgvsp: ENSP00000405929.1:p.Lys223Asn
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.829G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*22G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+300G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+300G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1045G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1045G>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys223Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

21-44475872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475872
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475872
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 5438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.664C>G
  hgvsp: ENSP00000405929.1:p.Pro222Arg
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.825C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+296C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1041C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+296C>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro222Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

21-44475876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475876
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475876
    reference: chr 21
allele count: 684
allele frequency: 1.092302778664963e-1
allele num: 6262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+292G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+292G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.660G>A
  hgvsp: ENSP00000405929.1:p.Ala221Thr
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1037G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.821G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1037G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.5e0
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Ala221Thr
num of homozygotes: 31
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

21-44475877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475877
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475877
    reference: chr 21
allele count: 2005
allele frequency: 2.548296898830706e-1
allele num: 7868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.659G>A
  hgvsp: ENST00000430013.1:c.659G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+291G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1036G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+291G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.820G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1036G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 2.5e0
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 394
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 7.5e0
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Thr220Thr
num of homozygotes: 222
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

21-44475878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475878
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475878
    reference: chr 21
allele count: 2
allele frequency: 2.457002457002457e-4
allele num: 8140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.819C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.658C>T
  hgvsp: ENSP00000405929.1:p.Thr220Met
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+290C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1035C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+290C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1035C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  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: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr220Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

21-44475878-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475878
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475879
    reference: chr 21
allele count: 2
allele frequency: 2.457002457002457e-4
allele num: 8140
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.657dupA
  hgvsp: ENSP00000405929.1:p.Thr220AsnfsTer22
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+289dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.818dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*11dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1034dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+289dupA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr220AsnfsTer22
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-44475882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475882
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475882
    reference: chr 21
allele count: 45
allele frequency: 5.307855626326964e-3
allele num: 8478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.654G>A
  hgvsp: ENSP00000405929.1:p.Gly219Ser
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+286G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.815G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+286G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1031G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1031G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Gly219Ser
num of homozygotes: 2
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

21-44475887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475887
    reference: chr 21
allele count: 1
allele frequency: 1.11185234600845e-4
allele num: 8994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+281G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.649G>A
  hgvsp: ENSP00000405929.1:p.Arg217Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.810G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+281G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1026G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1026G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg217Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

21-44475910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475910
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475910
    reference: chr 21
allele count: 2
allele frequency: 1.805706031058144e-4
allele num: 11076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.787G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+258G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1003G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+258G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.626G>A
  hgvsp: ENST00000430013.1:c.626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.459G>A
  hgvsp: ENSP00000408014.1:p.Val154Ile
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val154Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

21-44475911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475911
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475911
    reference: chr 21
allele count: 1
allele frequency: 8.925383791503035e-5
allele num: 11204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.458C>G
  hgvsp: ENSP00000408014.1:p.His153Gln
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.625C>G
  hgvsp: ENSP00000405929.1:p.Thr209Arg
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+257C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.786C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+257C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+1002C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+1002C>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His153Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

21-44475917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475917
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475917
    reference: chr 21
allele count: 1
allele frequency: 8.463100880162491e-5
allele num: 11816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+251C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.619C>T
  hgvsp: ENSP00000405929.1:p.Ser207Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.780C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+251C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.452C>T
  hgvsp: ENST00000458223.1:c.452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+996C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+996C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser207Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

21-44475933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475933
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475933
    reference: chr 21
allele count: 2
allele frequency: 1.589572405023049e-4
allele num: 12582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+235C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.436C>T
  hgvsp: ENSP00000408014.1:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.603C>T
  hgvsp: ENSP00000405929.1:p.Arg202Cys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+235C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.764C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+980C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+980C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro146Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

21-44475950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475950
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475950
    reference: chr 21
allele count: 1
allele frequency: 7.845598619174644e-5
allele num: 12746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.747T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.419T>C
  hgvsp: ENST00000458223.1:c.419T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.586T>C
  hgvsp: ENSP00000405929.1:p.Val196Ala
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+218T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+218T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+963T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+963T>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val196Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/21-44475952-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475952
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475952
    reference: chr 21
allele count: 2
allele frequency: 1.568135486906069e-4
allele num: 12754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.584T>G
  hgvsp: ENSP00000405929.1:p.His195Gln
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+216T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.417T>G
  hgvsp: ENSP00000408014.1:p.Cys140Gly
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+216T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+961T>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.745T>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys140Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

21-44475953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475953
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475953
    reference: chr 21
allele count: 1355
allele frequency: 1.027605035643865e-1
allele num: 13186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+215A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.744A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.583A>G
  hgvsp: ENSP00000405929.1:p.His195Arg
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+215A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.416A>G
  hgvsp: ENST00000458223.1:c.416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+960A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+960A>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 19395
  bin: 2.5e0
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.His195Arg
num of homozygotes: 82
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-44475976-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475976
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475976
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 12826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+192C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.721C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+192C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.393C>A
  hgvsp: ENSP00000408014.1:p.Pro132Thr
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+937C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.560C>A
  hgvsp: ENST00000430013.1:c.560C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+937C>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28910
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro132Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

21-44475986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475986
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475986
    reference: chr 21
allele count: 1
allele frequency: 8.010253123998718e-5
allele num: 12484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+182T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.383T>C
  hgvsp: ENST00000458223.1:c.383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+182T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-6T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+927T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.711T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+927T>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32666
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.556-6T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

21-44475998-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44475998
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475997
    reference: chr 21
allele count: 1
allele frequency: 8.127438231469441e-5
allele num: 12304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.370delA
  hgvsp: ENSP00000408014.1:p.Asp124ValfsTer46
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.698delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+169delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+914delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-19delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+169delA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp124ValfsTer46
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: AT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

21-44476000-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476001
    reference: chr 21
allele count: 628
allele frequency: 1.099824868651489e-1
allele num: 5710
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+167dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+167dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-21dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+912dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.696dupA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.368dupA
  hgvsp: ENSP00000408014.1:p.Asp124ArgfsTer65
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+912dupA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp124ArgfsTer65
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-44476000-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475999
    reference: chr 21
allele count: 945
allele frequency: 1.654991243432574e-1
allele num: 5710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+167delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.368delA
  hgvsp: ENSP00000408014.1:p.Asp124MetfsTer46
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.696delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-21delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+167delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+912delA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+912delA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
hgvs: p.Asp124MetfsTer46
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

21-44476000-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475998
    reference: chr 21
allele count: 6
allele frequency: 1.050788091068301e-3
allele num: 5710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+911_843+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-22_556-21delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+166_1594+167delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+911_1552+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+911_1552+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+911_1863+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.367_368delAA
  hgvsp: ENSP00000408014.1:p.Lys123ArgfsTer65
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+911_1552+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.695_696delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+166_344+167delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+911_1552+912delAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+911_1288+912delAA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Lys123ArgfsTer65
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CTT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

21-44476000-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476002
    reference: chr 21
allele count: 8
allele frequency: 1.401050788091068e-3
allele num: 5710
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+911_843+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+911_1552+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+166_344+167dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+911_1552+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+911_1552+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+911_1863+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.367_368dupAA
  hgvsp: ENSP00000408014.1:p.Asp124LysfsTer47
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+911_1552+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.695_696dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-22_556-21dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+911_1288+912dupAA
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+166_1594+167dupAA
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp124LysfsTer47
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

21-44476000-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476000
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44475997
    reference: chr 21
allele count: 2
allele frequency: 3.502626970227671e-4
allele num: 5710
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23516
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 3.344481605351171e-3
  allele num: 598
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1684
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 184
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CTTT
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

21-44476008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476008
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476008
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 15230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+160A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.361A>G
  hgvsp: ENSP00000408014.1:p.Lys121Arg
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.689A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+160A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-28A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+905A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+905A>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys121Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-44476013-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476013
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476013
    reference: chr 21
allele count: 1
allele frequency: 6.402048655569782e-5
allele num: 15620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+155A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-2A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-33A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+900A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.684A>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+155A>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23631
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.358-2A>T
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: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

21-44476015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476015
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476015
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 15832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+153T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+153T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-4T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-35T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.682T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+898T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+898T>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22069
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.358-4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

21-44476022-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476022
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476022
    reference: chr 21
allele count: 1
allele frequency: 5.694760820045558e-5
allele num: 17560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+146G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.675G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+146G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-42G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-11G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+891G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+891G>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-44476036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476036
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476036
    reference: chr 21
allele count: 6
allele frequency: 2.318213430183139e-4
allele num: 25882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.661A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-56A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+132A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-25A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+877A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+132A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+877A>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35543
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

21-44476039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476039
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476039
    reference: chr 21
allele count: 1
allele frequency: 3.495037047392702e-5
allele num: 28612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-28C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.658C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+129C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-59C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+874C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+129C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

21-44476053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476053
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476053
    reference: chr 21
allele count: 2
allele frequency: 4.313319530710835e-5
allele num: 46368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+115C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.644C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-73C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+115C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+860C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-42C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

21-44476054-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476054
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476054
    reference: chr 21
allele count: 2
allele frequency: 4.203093476798924e-5
allele num: 47584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+114T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.643T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-74T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+859T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-43T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+114T>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+859T>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13470
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

21-44476060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476060
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476060
    reference: chr 21
allele count: 15
allele frequency: 2.666382252559727e-4
allele num: 56256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.556-80G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.637G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+108G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+108G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+853G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.358-49G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26739
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-44476125-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476125
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476125
    reference: chr 21
allele count: 78
allele frequency: 6.915874592140729e-4
allele num: 112784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.555+43T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+43T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.357+43T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.572T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+788T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+43T>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+788T>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

21-44476130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476130
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476130
    reference: chr 21
allele count: 1
allele frequency: 8.868393047179851e-6
allele num: 112760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.567C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.555+38C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+38C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+38C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+783C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.357+38C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

21-44476132-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476132
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476132
    reference: chr 21
allele count: 2
allele frequency: 1.773395520402916e-5
allele num: 112778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.565C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+36C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+36C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.555+36C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+781C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.357+36C>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

21-44476146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476146
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476146
    reference: chr 21
allele count: 1
allele frequency: 8.863048179529905e-6
allele num: 112828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.551G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+22G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+22G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.555+22G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+767G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.357+22G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

21-44476151-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476151
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476151
    reference: chr 21
allele count: 1
allele frequency: 8.858494410290027e-6
allele num: 112886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.555+17C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.357+17C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.546C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1594+17C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+762C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.344+17C>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

21-44476174-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476174
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476175
    reference: chr 21
allele count: 12
allele frequency: 1.062944000566904e-4
allele num: 112894
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1587dupG
  hgvsp: ENSP00000381234.1:p.Pro530AlafsTer23
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.337dupG
  hgvsp: ENSP00000402823.1:p.Pro114AlafsTer23
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.350dupG
  hgvsp: ENSP00000408014.1:p.Pro118AlafsTer71
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.548dupG
  hgvsp: ENSP00000405929.1:p.Pro184AlafsTer33
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.522dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+738dupG
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+738dupG
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro114AlafsTer23
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

21-44476175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476175
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476175
    reference: chr 21
allele count: 1
allele frequency: 8.863048179529905e-6
allele num: 112828
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.337G>A
  hgvsp: ENST00000451248.1:c.337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.350G>A
  hgvsp: ENST00000458223.1:c.350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1587G>A
  hgvsp: ENST00000398168.1:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.548G>A
  hgvsp: ENST00000430013.1:c.548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.522G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+738G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+738G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly113Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-44476176-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476176
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476176
    reference: chr 21
allele count: 2
allele frequency: 1.768377866982617e-5
allele num: 113098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.521G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.547G>T
  hgvsp: ENSP00000405929.1:p.Gly183Val
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.336G>T
  hgvsp: ENSP00000402823.1:p.Gly113Val
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.349G>T
  hgvsp: ENSP00000408014.1:p.Gly117Val
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1586G>T
  hgvsp: ENSP00000381234.1:p.Gly529Val
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+737G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+737G>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly113Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-44476179-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476179
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476179
    reference: chr 21
allele count: 106
allele frequency: 9.366936481566576e-4
allele num: 113164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.544G>C
  hgvsp: ENSP00000405929.1:p.Gly182Ala
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.518G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1583G>C
  hgvsp: ENSP00000381234.1:p.Gly528Ala
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.346G>C
  hgvsp: ENSP00000408014.1:p.Gly116Ala
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+734G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.333G>C
  hgvsp: ENSP00000402823.1:p.Gly112Ala
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+734G>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Gly112Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-44476179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476179
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476179
    reference: chr 21
allele count: 2
allele frequency: 1.767346505955958e-5
allele num: 113164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.333G>A
  hgvsp: ENSP00000402823.1:p.Gly112Glu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.518G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.346G>A
  hgvsp: ENSP00000408014.1:p.Gly116Glu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.544G>A
  hgvsp: ENSP00000405929.1:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+734G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1583G>A
  hgvsp: ENSP00000381234.1:p.Gly528Glu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+734G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly112Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/21-44476181-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476181
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476181
    reference: chr 21
allele count: 4
allele frequency: 3.533069530808366e-5
allele num: 113216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.516G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.331G>T
  hgvsp: ENST00000451248.1:c.331G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.344G>T
  hgvsp: ENST00000458223.1:c.344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.542G>T
  hgvsp: ENST00000430013.1:c.542G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+732G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1581G>T
  hgvsp: ENST00000398168.1:c.1581G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+732G>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val111Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

21-44476181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476181
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476181
    reference: chr 21
allele count: 1
allele frequency: 8.832673827020915e-6
allele num: 113216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1581G>C
  hgvsp: ENST00000398168.1:c.1581G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.344G>C
  hgvsp: ENST00000458223.1:c.344G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.542G>C
  hgvsp: ENST00000430013.1:c.542G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+732G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.516G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.331G>C
  hgvsp: ENST00000451248.1:c.331G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val111Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

21-44476183-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476183
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476183
    reference: chr 21
allele count: 1
allele frequency: 8.837669683257919e-6
allele num: 113152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.342G>C
  hgvsp: ENSP00000408014.1:p.Val115Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.540G>C
  hgvsp: ENSP00000405929.1:p.Val181Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.329G>C
  hgvsp: ENSP00000402823.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1579G>C
  hgvsp: ENSP00000381234.1:p.Val527Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+730G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.514G>C
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val111Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

21-44476186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476186
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476186
    reference: chr 21
allele count: 1
allele frequency: 8.835483300936561e-6
allele num: 113180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1576G>A
  hgvsp: ENSP00000381234.1:p.Val526Met
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.339G>A
  hgvsp: ENSP00000408014.1:p.Val114Met
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.537G>A
  hgvsp: ENSP00000405929.1:p.Val180Met
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.511G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.326G>A
  hgvsp: ENSP00000402823.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+727G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+727G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val110Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-44476187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476187
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476187
    reference: chr 21
allele count: 7
allele frequency: 6.19151232110952e-5
allele num: 113058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.325C>T
  hgvsp: ENST00000451248.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.510C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1575C>T
  hgvsp: ENST00000398168.1:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.338C>T
  hgvsp: ENST00000458223.1:c.338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.536C>T
  hgvsp: ENST00000430013.1:c.536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+726C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+726C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly109Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-44476201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476201
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476201
    reference: chr 21
allele count: 1
allele frequency: 8.848931049129265e-6
allele num: 113008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.311C>T
  hgvsp: ENSP00000402823.1:p.Gln105Ter
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1561C>T
  hgvsp: ENSP00000381234.1:p.Gln521Ter
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.496C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.324C>T
  hgvsp: ENSP00000408014.1:p.Gln109Ter
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.522C>T
  hgvsp: ENSP00000405929.1:p.Gln175Ter
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+712C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+712C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln105Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-44476203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476203
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476203
    reference: chr 21
allele count: 6
allele frequency: 5.310016461051029e-5
allele num: 112994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1559A>G
  hgvsp: ENSP00000381234.1:p.Asp520Gly
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.494A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.520A>G
  hgvsp: ENSP00000405929.1:p.Asp174Gly
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.322A>G
  hgvsp: ENSP00000408014.1:p.Asp108Gly
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+710A>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.309A>G
  hgvsp: ENSP00000402823.1:p.Asp104Gly
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+710A>G
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp104Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/21-44476208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476208
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476208
    reference: chr 21
allele count: 1
allele frequency: 8.855983988380948e-6
allele num: 112918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.317G>T
  hgvsp: ENST00000458223.1:c.317G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1554G>T
  hgvsp: ENST00000398168.1:c.1554G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.515G>T
  hgvsp: ENST00000430013.1:c.515G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.304G>T
  hgvsp: ENST00000451248.1:c.304G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.489G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+705G>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+705G>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.304G>T
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-44476209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476209
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476209
    reference: chr 21
allele count: 3
allele frequency: 2.657454158915759e-5
allele num: 112890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316C>T
  hgvsp: ENSP00000408014.1:p.Ser106Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553C>T
  hgvsp: ENSP00000381234.1:p.Ser518Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514C>T
  hgvsp: ENSP00000405929.1:p.Ser172Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303C>T
  hgvsp: ENSP00000402823.1:p.Ser102Leu
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+704C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+704C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser102Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

21-44476210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476210
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476210
    reference: chr 21
allele count: 1
allele frequency: 8.858180529719195e-6
allele num: 112890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-1G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-1G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-1G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-1G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-1G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+703G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+703G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.303-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

21-44476217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476217
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476217
    reference: chr 21
allele count: 1
allele frequency: 8.882414595583663e-6
allele num: 112582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-8C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-8C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+696C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-8C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-8C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-8C>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+696C>A
  variant of: http://identifiers.org/hgnc/1550
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.303-8C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

21-44476226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476226
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476226
    reference: chr 21
allele count: 7
allele frequency: 6.238859180035651e-5
allele num: 112200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-17C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-17C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-17C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+687C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-17C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-17C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+687C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

21-44476228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476228
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476228
    reference: chr 21
allele count: 1
allele frequency: 8.913450396648543e-6
allele num: 112190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-19C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-19C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-19C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-19C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-19C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+685C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+685C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

21-44476232-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476232
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476233
    reference: chr 21
allele count: 1
allele frequency: 8.925702452783034e-6
allele num: 112036
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-24dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-24dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-24dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-24dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+680dupC
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-24dupC
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

21-44476244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476244
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476244
    reference: chr 21
allele count: 3
allele frequency: 2.69207990093146e-5
allele num: 111438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-35A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-35A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-35A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-35A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+669A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-35A>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+669A>C
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-44476245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476245
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476245
    reference: chr 21
allele count: 1
allele frequency: 8.974243919949743e-6
allele num: 111430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-36C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-36C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-36C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-36C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+668C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-36C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-44476250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476250
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476250
    reference: chr 21
allele count: 1
allele frequency: 9.016969937422229e-6
allele num: 110902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-41G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-41G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+663G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-41G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-41G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-41G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-44476255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476255
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476255
    reference: chr 21
allele count: 4
allele frequency: 3.622794623772778e-5
allele num: 110412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-46G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-46G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-46G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-46G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+658G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-46G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

21-44476256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476256
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476256
    reference: chr 21
allele count: 3
allele frequency: 2.719312557785392e-5
allele num: 110322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.488-47C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.514-47C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1553-47C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.303-47C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+657C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.316-47C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+657C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

21-44476895-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476895
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476895
    reference: chr 21
allele count: 1
allele frequency: 4.882335709403378e-5
allele num: 20482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.487+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.513+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.302+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1552+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.315+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+18C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+18C>G
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-44476901-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476901
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476901
    reference: chr 21
allele count: 1
allele frequency: 4.85767026134266e-5
allele num: 20586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.315+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.302+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.513+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.487+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

21-44476902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476902
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476902
    reference: chr 21
allele count: 2
allele frequency: 9.704968944099378e-5
allele num: 20608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1552+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.487+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.302+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1552+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1552+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1288+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.315+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.843+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1863+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.513+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1552+11C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1552+11C>T
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-44476914-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476914
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476914
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 20854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.512G>C
  hgvsp: ENSP00000405929.1:p.Gln171His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.301G>C
  hgvsp: ENSP00000402823.1:p.Gln101His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1551G>C
  hgvsp: ENSP00000381234.1:p.Gln517His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1551G>C
  hgvsp: ENSP00000381225.1:p.Gln517His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1551G>C
  hgvsp: ENSP00000381231.3:p.Gln517His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.314G>C
  hgvsp: ENSP00000408014.1:p.Gln105His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1551G>C
  hgvsp: ENSP00000344460.5:p.Gln517His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1862G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.486G>C
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1551G>C
  hgvsp: ENSP00000352643.3:p.Gln517His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1287G>C
  hgvsp: ENSP00000439332.1:p.Gln429His
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.842G>C
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln517His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

21-44476925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476925
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476925
    reference: chr 21
allele count: 1
allele frequency: 4.770082045411181e-5
allele num: 20964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1540G>A
  hgvsp: ENSP00000381234.1:p.Glu514Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1851G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1540G>A
  hgvsp: ENSP00000381231.3:p.Glu514Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1276G>A
  hgvsp: ENSP00000439332.1:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.290G>A
  hgvsp: ENSP00000402823.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1540G>A
  hgvsp: ENSP00000381225.1:p.Glu514Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.831G>A
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1540G>A
  hgvsp: ENSP00000344460.5:p.Glu514Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.501G>A
  hgvsp: ENSP00000405929.1:p.Glu168Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.303G>A
  hgvsp: ENSP00000408014.1:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1540G>A
  hgvsp: ENSP00000352643.3:p.Glu514Lys
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.475G>A
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu514Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-44476926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44476926
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 44476926
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 20990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381231
  ensembl transcript: ENST00000398165
  gene symbol: CBS
  hgvsc: ENST00000398165.3:c.1539C>T
  hgvsp: ENST00000398165.3:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000402823
  ensembl transcript: ENST00000451248
  gene symbol: CBS
  hgvsc: ENST00000451248.1:c.289C>T
  hgvsp: ENST00000451248.1:c.289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000462349
  gene symbol: CBS
  hgvsc: ENST00000462349.1:n.830C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000461686
  gene symbol: CBS
  hgvsc: ENST00000461686.1:n.1850C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000405929
  ensembl transcript: ENST00000430013
  gene symbol: CBS
  hgvsc: ENST00000430013.1:c.500C>T
  hgvsp: ENST00000430013.1:c.500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381225
  ensembl transcript: ENST00000398158
  gene symbol: CBS
  hgvsc: ENST00000398158.1:c.1539C>T
  hgvsp: ENST00000398158.1:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000439332
  ensembl transcript: ENST00000544202
  gene symbol: CBS
  hgvsc: ENST00000544202.1:c.1275C>T
  hgvsp: ENST00000544202.1:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160200
  ensembl transcript: ENST00000491776
  gene symbol: CBS
  hgvsc: ENST00000491776.1:n.474C>T
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000352643
  ensembl transcript: ENST00000359624
  gene symbol: CBS
  hgvsc: ENST00000359624.3:c.1539C>T
  hgvsp: ENST00000359624.3:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000381234
  ensembl transcript: ENST00000398168
  gene symbol: CBS
  hgvsc: ENST00000398168.1:c.1539C>T
  hgvsp: ENST00000398168.1:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000344460
  ensembl transcript: ENST00000352178
  gene symbol: CBS
  hgvsc: ENST00000352178.5:c.1539C>T
  hgvsp: ENST00000352178.5:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160200
  ensembl protein: ENSP00000408014
  ensembl transcript: ENST00000458223
  gene symbol: CBS
  hgvsc: ENST00000458223.1:c.302C>T
  hgvsp: ENST00000458223.1:c.302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1550
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33424
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His513His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD

GenotypeDepth
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4522
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.24744e5

QD
type: SiteQuality
SIO_000300: 2.633e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.262e-1

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4625
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3677
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -9.211e-1

DP
type: SiteQuality
SIO_000300: 1.28297e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

GenotypeDepth
all individuals: 103
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 164
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 14

GenotypeQuality
all individuals: 76
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 197
bin: 1.75e1
variant carriers: 22

GenotypeQuality
all individuals: 95
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 737
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 777
bin: 6.25e1
variant carriers: 15

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 23

GenotypeQuality
all individuals: 4245
bin: 7.5e0
variant carriers: 34

GenotypeQuality
all individuals: 3179
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1142
bin: 9.75e1
variant carriers: 612

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 24

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 33

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 16

African
type: Population
allele count: 26
allele frequency: 3.561643835616438e-2
allele num: 730
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 379
allele frequency: 1.257465162574652e-1
allele num: 3014
num of homozygotes: 18

European (Finnish)
type: Population
allele count: 2
allele frequency: 6.666666666666667e-2
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.408450704225352e-2
allele num: 426
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 1.100917431192661e-1
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 239
allele frequency: 1.342696629213483e-1
allele num: 1780
num of homozygotes: 12

Other
type: Population
allele count: 8
allele frequency: 1.25e-1
allele num: 64
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.39053e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeDepth
all individuals: 34
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 630
bin: 6.25e1
variant carriers: 31

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 40

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 51

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 46

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 30

GenotypeQuality
all individuals: 968
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 47

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 66

GenotypeQuality
all individuals: 59
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 34

GenotypeQuality
all individuals: 2328
bin: 2.25e1
variant carriers: 57

GenotypeQuality
all individuals: 3381
bin: 7.5e0
variant carriers: 108

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1878
bin: 9.75e1
variant carriers: 1621

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 55

GenotypeQuality
all individuals: 171
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 72

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 36

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 30

GenotypeQuality
all individuals: 126
bin: 7.75e1
variant carriers: 62

European (Non-Finnish)
type: Population
allele count: 783
allele frequency: 2.284130688448075e-1
allele num: 3428
num of homozygotes: 78

European (Finnish)
type: Population
allele count: 10
allele frequency: 3.333333333333333e-1
allele num: 30
num of homozygotes: 4

Latino
type: Population
allele count: 32
allele frequency: 1.403508771929824e-1
allele num: 228
num of homozygotes: 4

Other
type: Population
allele count: 23
allele frequency: 2.613636363636364e-1
allele num: 88
num of homozygotes: 2

South Asian
type: Population
allele count: 810
allele frequency: 2.860169491525424e-1
allele num: 2832
num of homozygotes: 81

African
type: Population
allele count: 292
allele frequency: 3.587223587223587e-1
allele num: 814
num of homozygotes: 46

East Asian
type: Population
allele count: 55
allele frequency: 1.227678571428571e-1
allele num: 448
num of homozygotes: 7

FS
type: SiteQuality
SIO_000300: 1.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.190000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.55958e5

QD
type: SiteQuality
SIO_000300: 1.632e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

GenotypeDepth
all individuals: 694
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 6.666666666666666e-4
allele num: 3000
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.40771e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 9.057e0

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

GenotypeDepth
all individuals: 22
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 934
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.691519635742744e-4
allele num: 3514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

DP
type: SiteQuality
SIO_000300: 1.40771e5

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 9.057e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5185
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 1.271186440677966e-2
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 4.939759036144578e-2
allele num: 830
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.078817733990148e-4
allele num: 3248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.45032e5

QD
type: SiteQuality
SIO_000300: 1.684e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 1.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 549
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 2.771618625277162e-4
allele num: 3608
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.216e1

FS
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BaseQRankSum
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SIO_000300: -7.42e-1

MQRankSum
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SIO_000300: 1.01e0

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -7.42e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.50386e5

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

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

South Asian
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allele frequency: 1.940240589833139e-4
allele num: 5154
num of homozygotes: 0

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

Other
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allele frequency: 8.333333333333333e-3
allele num: 120
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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QD
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FS
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: 4.21e-1

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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 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

East Asian
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allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

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

South Asian
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allele frequency: 1.907668828691339e-4
allele num: 5242
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InbreedingCoeff
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SIO_000300: -6.54e-2

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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QD
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.82269e5

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 439
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.758705592683785e-4
allele num: 5686
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 5.5e-1

InbreedingCoeff
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SIO_000300: -6.809999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.824e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.734e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.608751608751609e-4
allele num: 6216
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.206531332744925e-4
allele num: 4532
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.811e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.188183807439825e-4
allele num: 4570
num of homozygotes: 0

Other
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

East Asian
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allele count: 15
allele frequency: 3.073770491803279e-2
allele num: 488
num of homozygotes: 0

South Asian
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allele frequency: 1.354510038957147e-1
allele num: 6674
num of homozygotes: 73

African
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allele frequency: 4.231625835189309e-2
allele num: 898
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European (Non-Finnish)
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allele count: 369
allele frequency: 7.901498929336188e-2
allele num: 4670
num of homozygotes: 7

European (Finnish)
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allele frequency: 2.631578947368421e-2
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num of homozygotes: 0

Latino
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allele frequency: 5.28169014084507e-2
allele num: 284
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Other
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allele num: 134
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

DP
type: SiteQuality
SIO_000300: 2.32292e5

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26228
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.39e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 2.33086e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30573
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 371
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.198768689533861e-4
allele num: 4548
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.47012e5

FS
type: SiteQuality
SIO_000300: 1.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.210000000000001e-2

GenotypeDepth
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32661
bin: 7.5e0
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GenotypeQuality
all individuals: 1039
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.061571125265393e-3
allele num: 942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.447e0

DP
type: SiteQuality
SIO_000300: 2.9414e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23516
bin: 2.5e0
variant carriers: 15

GenotypeQuality
all individuals: 69
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 45

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 87
bin: 7.25e1
variant carriers: 42

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 49

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 411
bin: 6.25e1
variant carriers: 61

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 26

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 121

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 93

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 74

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 137

GenotypeQuality
all individuals: 17867
bin: 7.5e0
variant carriers: 28

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 3965
bin: 2.25e1
variant carriers: 31

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 110

East Asian
type: Population
allele count: 25
allele frequency: 6.983240223463687e-2
allele num: 358
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 4.891304347826087e-2
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 5.351170568561873e-2
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 214
allele frequency: 7.873436350257543e-2
allele num: 2718
num of homozygotes: 0

South Asian
type: Population
allele count: 342
allele frequency: 2.030878859857482e-1
allele num: 1684
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.153846153846154e-1
allele num: 52
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.128e-1

DP
type: SiteQuality
SIO_000300: 3.43888e5

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 3.01e0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 411
bin: 6.25e1
variant carriers: 105

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 59

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 38

GenotypeQuality
all individuals: 87
bin: 7.25e1
variant carriers: 33

GenotypeQuality
all individuals: 3965
bin: 2.25e1
variant carriers: 27

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 78

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 70

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 95

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 41

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 27

GenotypeQuality
all individuals: 69
bin: 7.75e1
variant carriers: 26

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 107

GenotypeQuality
all individuals: 17867
bin: 7.5e0
variant carriers: 48

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 76

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 17

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 47

GenotypeQuality
all individuals: 23516
bin: 2.5e0
variant carriers: 28

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 376

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 35

Other
type: Population
allele count: 11
allele frequency: 2.115384615384615e-1
allele num: 52
num of homozygotes: 0

African
type: Population
allele count: 70
allele frequency: 1.17056856187291e-1
allele num: 598
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 7.608695652173914e-2
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 59
allele frequency: 1.64804469273743e-1
allele num: 358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.586206896551724e-2
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 561
allele frequency: 2.06401766004415e-1
allele num: 2718
num of homozygotes: 0

South Asian
type: Population
allele count: 227
allele frequency: 1.347980997624703e-1
allele num: 1684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.128e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.095e0

DP
type: SiteQuality
SIO_000300: 3.43888e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17867
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23516
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
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GenotypeQuality
all individuals: 69
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 411
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.471670345842531e-3
allele num: 2718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.187648456057007e-3
allele num: 1684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 3.43888e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.128e-1

FS
type: SiteQuality
SIO_000300: 2.095e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 3.01e0

GenotypeDepth
all individuals: 339
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17867
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 3965
bin: 2.25e1
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GenotypeQuality
all individuals: 69
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 259
bin: 3.25e1
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GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23516
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.471670345842531e-3
allele num: 2718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.781472684085511e-3
allele num: 1684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.923076923076923e-2
allele num: 52
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.128e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 3.43888e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 2.095e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
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: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.43888e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 3.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.128e-1

QD
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SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 2.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6956
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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 2.22e0

QD
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SIO_000300: 1.082e1

MQ
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DP
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MQRankSum
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ClippingRankSum
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SIO_000300: -7.29e-1

VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.352447930754666e-4
allele num: 7394
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.53e-2

DP
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SIO_000300: 3.62695e5

BaseQRankSum
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SIO_000300: 3.58e-1

ReadPosRankSum
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SIO_000300: -3.58e-1

ClippingRankSum
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SIO_000300: 7.15e-1

VQSLOD
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SIO_000300: -2.093e0

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 251
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
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SIO_000300: 3.73733e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
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SIO_000300: 7.27e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
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SIO_000300: 7.27e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1226
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 574
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

South Asian
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InbreedingCoeff
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SIO_000300: -3.44e-2

BaseQRankSum
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SIO_000300: -2.12e-1

FS
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DP
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -2.12e-1

QD
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ReadPosRankSum
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SIO_000300: 9.78e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.720238095238095e-4
allele num: 13440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1994
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.416195856873823e-4
allele num: 1062
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
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MQRankSum
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DP
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MQ
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.94e-2

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.48e-1

VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

Other
type: Population
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allele num: 240
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2396
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European (Non-Finnish)
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allele frequency: 6.615506747816882e-5
allele num: 15116
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

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

African
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allele count: 2
allele frequency: 5.353319057815846e-4
allele num: 3736
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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FS
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

DP
type: SiteQuality
SIO_000300: 6.85871e5

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.107520198881293e-4
allele num: 6436
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.263e-1

FS
type: SiteQuality
SIO_000300: 2.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 7.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 6.96566e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

GenotypeQuality
all individuals: 1757
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26016
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.104047678172337e-5
allele num: 32216
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 2.946509519492294e-3
allele num: 4412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.374759417102007e-4
allele num: 7274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 7.68717e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 1.987e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeDepth
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10853
bin: 9.75e1
variant carriers: 77

GenotypeQuality
all individuals: 534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.198753296571566e-4
allele num: 8342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.198846515244791e-3
allele num: 61726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.5773573390296e-4
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.418e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.942185e6

GenotypeDepth
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18669
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.192e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.726e0

DP
type: SiteQuality
SIO_000300: 1.944107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeDepth
all individuals: 10980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10798
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.292156609381057e-4
allele num: 15478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.824e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.945784e6

GenotypeDepth
all individuals: 108
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 3093
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variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10795
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variant carriers: 1

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 626
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

DP
type: SiteQuality
SIO_000300: 1.957033e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeDepth
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10793
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620167849389197e-5
allele num: 61722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 3.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.960521e6

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

GenotypeDepth
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2458
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.75e1
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GenotypeQuality
all individuals: 209
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variant carriers: 1

GenotypeQuality
all individuals: 8081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 2

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

African
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allele count: 3
allele frequency: 3.62143891839691e-4
allele num: 8284
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.461038961038961e-4
allele num: 61600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
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SIO_000300: 5.05e-1

BaseQRankSum
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SIO_000300: -4.5e-1

MQ
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InbreedingCoeff
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DP
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VQSLOD
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QD
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SIO_000300: 6.2e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.320313487548983e-5
allele num: 15822
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61566
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 1.74e-1

DP
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SIO_000300: 1.977028e6

MQ
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QD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.2e-3

ClippingRankSum
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SIO_000300: 1.74e-1

VQSLOD
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SIO_000300: 3.25e0

ReadPosRankSum
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SIO_000300: 4.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11388
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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.240335698778393e-5
allele num: 61722
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.33e0

ReadPosRankSum
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SIO_000300: 1.24e0

QD
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ClippingRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.509e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 106

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61726
num of homozygotes: 0

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

East Asian
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allele count: 96
allele frequency: 1.138519924098672e-2
allele num: 8432
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

South Asian
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allele count: 10
allele frequency: 6.256256256256256e-4
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ClippingRankSum
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SIO_000300: -7.4e-2

BaseQRankSum
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QD
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SIO_000300: 1.218e1

VQSLOD
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MQRankSum
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SIO_000300: 2.07e-1

MQ
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SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.448e0

DP
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SIO_000300: 1.980736e6

ReadPosRankSum
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SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeDepth
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variant carriers: 0

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

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: 8432
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.240125716877815e-5
allele num: 61726
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 4.4e-3

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.619643030676039e-5
allele num: 61742
num of homozygotes: 0

Latino
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allele num: 11386
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.619643030676039e-5
allele num: 61742
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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European (Finnish)
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African
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East Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8195
bin: 6.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620535424904389e-5
allele num: 61708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 2.097e0

BaseQRankSum
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SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
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SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.97732e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

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

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

QD
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SIO_000300: 6.77e0

BaseQRankSum
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SIO_000300: 1.32e0

InbreedingCoeff
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SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
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SIO_000300: 2.26e0

MQRankSum
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SIO_000300: 2.26e0

VQSLOD
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SIO_000300: -2.976e0

DP
type: SiteQuality
SIO_000300: 1.978935e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 190
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

Latino
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allele count: 5
allele frequency: 4.394445420987871e-4
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.244962196190415e-5
allele num: 61634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.977623e6

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.666e0

ClippingRankSum
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SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 1.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeDepth
all individuals: 2449
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1618
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.734e0

BaseQRankSum
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SIO_000300: -5.194e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 1.977394e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.125060937957035e-5
allele num: 61538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.548467017652524e-4
allele num: 6458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 1.976785e6

FS
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
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SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20766
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GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626439398867998e-5
allele num: 61484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
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SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.97494e6

QD
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.253619651862698e-5
allele num: 61470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e0

InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.974837e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
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SIO_000300: 5.42e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626703972411101e-5
allele num: 61474
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.974154e6

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.253e-1

ReadPosRankSum
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SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 7.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10799
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631108501337509e-5
allele num: 61308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966648e6

MQRankSum
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SIO_000300: 1.68e0

ClippingRankSum
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SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

FS
type: SiteQuality
SIO_000300: 4.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61110
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.211180124223603e-4
allele num: 8050
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.169792694965449e-5
allele num: 16208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
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SIO_000300: 1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.956752e6

QD
type: SiteQuality
SIO_000300: 1.119e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7965
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GenotypeQuality
all individuals: 3475
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61092
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
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SIO_000300: -2.45e-1

VQSLOD
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SIO_000300: -2.496e0

DP
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FS
type: SiteQuality
SIO_000300: 1.946e0

InbreedingCoeff
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SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 2.456e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.245019920318725e-4
allele num: 8032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61018
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.68e0

VQSLOD
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SIO_000300: 1.55e0

BaseQRankSum
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SIO_000300: 9.95e-1

DP
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InbreedingCoeff
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SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 783
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.94168808064835e-5
allele num: 60708
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
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SIO_000300: 2.3e-3

DP
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.91e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.260716086737267e-4
allele num: 7932
num of homozygotes: 0

Other
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: 60692
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10781
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.885969e6

BaseQRankSum
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SIO_000300: -2.756e0

InbreedingCoeff
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SIO_000300: 7.0e-4

ClippingRankSum
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SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

FS
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SIO_000300: 1.123e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.324689141565264e-5
allele num: 60156
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.285347043701799e-4
allele num: 7780
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.941344778254649e-5
allele num: 11184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 2.182e0

InbreedingCoeff
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SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
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SIO_000300: 1.868453e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1588
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.287995878413189e-4
allele num: 7764
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.238543472875898e-4
allele num: 16148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60106
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.865227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.486e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.149954001839926e-4
allele num: 8696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.815e0

ReadPosRankSum
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SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.71811e5

BaseQRankSum
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SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
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SIO_000300: -7.530000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

VQSLOD
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SIO_000300: -1.866e0

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 3500
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.0e-3
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
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SIO_000300: 1.143e1

ClippingRankSum
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SIO_000300: -8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
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SIO_000300: -7.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
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SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 6.78862e5

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.274795268425842e-4
allele num: 8792
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.036e1

QD
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SIO_000300: 1.161e1

BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -5.13e-1

InbreedingCoeff
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SIO_000300: -7.580000000000001e-2

DP
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SIO_000300: 6.79887e5

MQ
type: SiteQuality
SIO_000300: 5.317e1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

Latino
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allele num: 400
num of homozygotes: 0

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

East Asian
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.644314868804665e-4
allele num: 2744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

FS
type: SiteQuality
SIO_000300: 2.766e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 7.10022e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
SIO_000300: 1.138e1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

GenotypeDepth
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6264
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31149
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0