http://identifiers.org/exac.variant/22-45931038-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931038
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931038
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-98C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-98C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-98C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-42C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-42C>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-45931038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931038
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931038
    reference: chr 22
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-98C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-98C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-98C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-42C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-42C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9889
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-45931044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931044
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931044
    reference: chr 22
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-92T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-36T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-92T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-92T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-36T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

22-45931054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931054
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931054
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-82A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-82A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-82A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-26A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-26A>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-45931068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931068
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931068
    reference: chr 22
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-68A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-68A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-68A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-12A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-12A>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-45931074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931074
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931074
    reference: chr 22
allele count: 8
allele frequency: 6.589243060703402e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.785-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.785-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-62T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.785-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-62T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.785-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.899-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.785-6T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-62T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.119-6T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.785-6T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

22-45931087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931087
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931087
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.126C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.792C>T
  hgvsp: ENST00000442170.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.792C>T
  hgvsp: ENST00000348697.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.792C>T
  hgvsp: ENST00000327858.6:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.792C>T
  hgvsp: ENST00000262722.7:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.792C>T
  hgvsp: ENST00000340923.5:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.906C>T
  hgvsp: ENST00000402984.3:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-49C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp264Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-45931104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931104
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931104
    reference: chr 22
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.809T>C
  hgvsp: ENSP00000262723.5:p.Ile270Thr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-32T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-32T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.809T>C
  hgvsp: ENSP00000393812.2:p.Ile270Thr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.143T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-32T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.809T>C
  hgvsp: ENSP00000331544.6:p.Ile270Thr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.809T>C
  hgvsp: ENSP00000262722.7:p.Ile270Thr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.809T>C
  hgvsp: ENSP00000342212.5:p.Ile270Thr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.923T>C
  hgvsp: ENSP00000385521.3:p.Ile308Thr
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile270Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-45931116-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931116
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931116
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.821T>A
  hgvsp: ENSP00000331544.6:p.Leu274His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-20T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-20T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.155T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.821T>A
  hgvsp: ENSP00000262722.7:p.Leu274His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.821T>A
  hgvsp: ENSP00000342212.5:p.Leu274His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.935T>A
  hgvsp: ENSP00000385521.3:p.Leu312His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.821T>A
  hgvsp: ENSP00000262723.5:p.Leu274His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-20T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.821T>A
  hgvsp: ENSP00000393812.2:p.Leu274His
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu274His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-45931120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931120
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931120
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.159C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.825C>A
  hgvsp: ENST00000327858.6:c.825C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.825C>A
  hgvsp: ENST00000340923.5:c.825C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-16C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.939C>A
  hgvsp: ENST00000402984.3:c.939C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.825C>A
  hgvsp: ENST00000262722.7:c.825C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.825C>A
  hgvsp: ENST00000348697.2:c.825C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-16C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-16C>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.825C>A
  hgvsp: ENST00000442170.2:c.825C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro275Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

22-45931120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931120
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931120
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.825C>T
  hgvsp: ENST00000340923.5:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.825C>T
  hgvsp: ENST00000327858.6:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.825C>T
  hgvsp: ENST00000262722.7:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.159C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-16C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-16C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.825C>T
  hgvsp: ENST00000348697.2:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.939C>T
  hgvsp: ENST00000402984.3:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-16C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.825C>T
  hgvsp: ENST00000442170.2:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro275Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

22-45931121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931121
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931121
    reference: chr 22
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.153-15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.826G>A
  hgvsp: ENSP00000262722.7:p.Asp276Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.826G>A
  hgvsp: ENSP00000262723.5:p.Asp276Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.940G>A
  hgvsp: ENSP00000385521.3:p.Asp314Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.826G>A
  hgvsp: ENSP00000331544.6:p.Asp276Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.160G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.826G>A
  hgvsp: ENSP00000393812.2:p.Asp276Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.826G>A
  hgvsp: ENSP00000342212.5:p.Asp276Asn
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.468-15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.411-15G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp276Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

22-45931154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931154
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931154
    reference: chr 22
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.973C>T
  hgvsp: ENSP00000385521.3:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.859C>T
  hgvsp: ENSP00000331544.6:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.429C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.859C>T
  hgvsp: ENSP00000262722.7:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.486C>T
  hgvsp: ENSP00000401077.1:p.Pro163Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.859C>T
  hgvsp: ENSP00000262723.5:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.859C>T
  hgvsp: ENSP00000342212.5:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.859C>T
  hgvsp: ENSP00000393812.2:p.Arg287Cys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.171C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.193C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg287Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

22-45931155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931155
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931155
    reference: chr 22
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.430G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.860G>A
  hgvsp: ENSP00000262723.5:p.Arg287His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.487G>A
  hgvsp: ENST00000437711.1:c.487G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.974G>A
  hgvsp: ENSP00000385521.3:p.Arg325His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.860G>A
  hgvsp: ENSP00000331544.6:p.Arg287His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.860G>A
  hgvsp: ENSP00000393812.2:p.Arg287His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.194G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.860G>A
  hgvsp: ENSP00000262722.7:p.Arg287His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.860G>A
  hgvsp: ENSP00000342212.5:p.Arg287His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.172G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg287His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

22-45931156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931156
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931156
    reference: chr 22
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.861C>T
  hgvsp: ENST00000327858.6:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.431C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.488C>T
  hgvsp: ENST00000437711.1:c.488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.173C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.861C>T
  hgvsp: ENST00000442170.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.861C>T
  hgvsp: ENST00000348697.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.195C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.861C>T
  hgvsp: ENST00000262722.7:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.975C>T
  hgvsp: ENST00000402984.3:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.861C>T
  hgvsp: ENST00000340923.5:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32965
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg287Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

22-45931158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931158
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931158
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.863G>A
  hgvsp: ENSP00000331544.6:p.Cys288Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.433G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.197G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.490G>A
  hgvsp: ENST00000437711.1:c.490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.175G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.977G>A
  hgvsp: ENSP00000385521.3:p.Cys326Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.863G>A
  hgvsp: ENSP00000393812.2:p.Cys288Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.863G>A
  hgvsp: ENSP00000342212.5:p.Cys288Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.863G>A
  hgvsp: ENSP00000262722.7:p.Cys288Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.863G>A
  hgvsp: ENSP00000262723.5:p.Cys288Tyr
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys288Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

22-45931171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931171
    reference: chr 22
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.876A>G
  hgvsp: ENST00000348697.2:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.210A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.188A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.990A>G
  hgvsp: ENST00000402984.3:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.503A>G
  hgvsp: ENSP00000401077.1:p.Thr169Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.876A>G
  hgvsp: ENST00000262722.7:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.876A>G
  hgvsp: ENST00000442170.2:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.446A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.876A>G
  hgvsp: ENST00000327858.6:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.876A>G
  hgvsp: ENST00000340923.5:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr169Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

22-45931177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931177
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931177
    reference: chr 22
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.194C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.882C>T
  hgvsp: ENST00000327858.6:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.882C>T
  hgvsp: ENST00000442170.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.216C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.452C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.882C>T
  hgvsp: ENST00000262722.7:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.509C>T
  hgvsp: ENSP00000401077.1:p.Gln171Ter
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.882C>T
  hgvsp: ENST00000340923.5:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.882C>T
  hgvsp: ENST00000348697.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.996C>T
  hgvsp: ENST00000402984.3:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9821
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32982
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln171Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

22-45931180-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931180
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931179
    reference: chr 22
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.220delA
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.513delA
  hgvsp: ENSP00000401077.1:p.Glu172GlyfsTer?
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.886delA
  hgvsp: ENSP00000262723.5:p.Ser296ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1000delA
  hgvsp: ENSP00000385521.3:p.Ser334ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.198delA
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.886delA
  hgvsp: ENSP00000262722.7:p.Ser296ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.886delA
  hgvsp: ENSP00000342212.5:p.Ser296ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.886delA
  hgvsp: ENSP00000331544.6:p.Ser296ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.886delA
  hgvsp: ENSP00000393812.2:p.Ser296ValfsTer8
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.456delA
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser296ValfsTer8
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: GA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

22-45931192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931192
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931192
    reference: chr 22
allele count: 29
allele frequency: 2.392660308240652e-4
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1011A>G
  hgvsp: ENSP00000385521.3:p.Ile337Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.897A>G
  hgvsp: ENSP00000342212.5:p.Ile299Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.897A>G
  hgvsp: ENSP00000393812.2:p.Ile299Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.897A>G
  hgvsp: ENSP00000262722.7:p.Ile299Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.231A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.209A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.897A>G
  hgvsp: ENSP00000262723.5:p.Ile299Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.467A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.897A>G
  hgvsp: ENSP00000331544.6:p.Ile299Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.524A>G
  hgvsp: ENSP00000401077.1:p.Thr176Ala
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile299Met
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

22-45931195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931195
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931195
    reference: chr 22
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.527A>G
  hgvsp: ENSP00000401077.1:p.Arg177Gly
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.900A>G
  hgvsp: ENST00000262722.7:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.470A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.900A>G
  hgvsp: ENST00000442170.2:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1014A>G
  hgvsp: ENST00000402984.3:c.1014A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.900A>G
  hgvsp: ENST00000348697.2:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.212A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.900A>G
  hgvsp: ENST00000340923.5:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.234A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.900A>G
  hgvsp: ENST00000327858.6:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9779
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg177Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

22-45931206-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931206
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931206
    reference: chr 22
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.538G>T
  hgvsp: ENSP00000401077.1:p.Arg180Ser
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.245G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.911G>T
  hgvsp: ENSP00000262723.5:p.Gly304Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.223G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.911G>T
  hgvsp: ENSP00000393812.2:p.Gly304Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.911G>T
  hgvsp: ENSP00000342212.5:p.Gly304Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.911G>T
  hgvsp: ENSP00000262722.7:p.Gly304Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.481G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.911G>T
  hgvsp: ENSP00000331544.6:p.Gly304Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1025G>T
  hgvsp: ENSP00000385521.3:p.Gly342Val
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32491
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly304Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

22-45931210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931210
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931210
    reference: chr 22
allele count: 3
allele frequency: 2.484636663298604e-5
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.915C>T
  hgvsp: ENST00000262722.7:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1029C>T
  hgvsp: ENST00000402984.3:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.915C>T
  hgvsp: ENST00000327858.6:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.915C>T
  hgvsp: ENST00000442170.2:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.915C>T
  hgvsp: ENST00000340923.5:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.485C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.542C>T
  hgvsp: ENST00000437711.1:c.542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.915C>T
  hgvsp: ENST00000348697.2:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.249C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.227C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn305Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

22-45931212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931212
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931212
    reference: chr 22
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.544G>A
  hgvsp: ENST00000437711.1:c.544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1031G>A
  hgvsp: ENSP00000385521.3:p.Cys344Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.917G>A
  hgvsp: ENSP00000262723.5:p.Cys306Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.251G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.229G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.917G>A
  hgvsp: ENSP00000262722.7:p.Cys306Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.487G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.917G>A
  hgvsp: ENSP00000342212.5:p.Cys306Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.917G>A
  hgvsp: ENSP00000393812.2:p.Cys306Tyr
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.917G>A
  hgvsp: ENSP00000331544.6:p.Cys306Tyr
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys306Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/22-45931223-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931223
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931223
    reference: chr 22
allele count: 116
allele frequency: 9.644163618224143e-4
allele num: 120280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.240A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+6A>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.262A>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24422
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 1
hgvs: c.922+6A>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

22-45931231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931231
    reference: chr 22
allele count: 10
allele frequency: 8.341396683460678e-5
allele num: 119884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.248C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.270C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+14C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+14C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

22-45931232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931232
    reference: chr 22
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.271G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+15G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.249G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

22-45931232-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931232
    reference: chr 22
allele count: 2
allele frequency: 1.670955452327641e-5
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.249G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.271G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+15G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+15G>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9697
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

22-45931234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931234
    reference: chr 22
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.273C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.251C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+17C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+17C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

22-45931237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931237
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931237
    reference: chr 22
allele count: 2
allele frequency: 1.671150921639733e-5
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.254G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.276G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+20G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+20G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

22-45931243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931243
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931243
    reference: chr 22
allele count: 39
allele frequency: 3.274009402283412e-4
allele num: 119120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.282C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.260C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+26C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+26C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15245
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-45931244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931244
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931244
    reference: chr 22
allele count: 112
allele frequency: 9.398653978483796e-4
allele num: 119166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.283G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.261G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+27G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+27G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

22-45931248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931248
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931248
    reference: chr 22
allele count: 1
allele frequency: 8.39390937935434e-6
allele num: 119134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.287T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.265T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+31T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+31T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

22-45931256-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931256
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931256
    reference: chr 22
allele count: 1
allele frequency: 8.4870911343846e-6
allele num: 117826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.273G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.295G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+39G>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+39G>C
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

22-45931261-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931261
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931261
    reference: chr 22
allele count: 3
allele frequency: 2.564716342372533e-5
allele num: 116972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.300G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.278G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+44G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+44G>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

22-45931262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931262
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931262
    reference: chr 22
allele count: 93366
allele frequency: 8.017001545595054e-1
allele num: 116460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.301C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+45C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.279C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+45C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 1.75e1
  variant carriers: 13229
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.25e1
  variant carriers: 3653
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 2.75e1
  variant carriers: 7379
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 514
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 1448
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 690
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 519
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 1.25e1
  variant carriers: 7257
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 818
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.75e1
  variant carriers: 1955
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.25e1
  variant carriers: 12563
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 1102
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 504
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 9.75e1
  variant carriers: 3290
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 524
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 6.25e1
  variant carriers: 3504
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 5.25e1
  variant carriers: 3839
num of homozygotes: 37768
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-45931266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931266
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931266
    reference: chr 22
allele count: 1
allele frequency: 8.886835042567939e-6
allele num: 112526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.283C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.305C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+49C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+49C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-45931267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45931267
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45931267
    reference: chr 22
allele count: 4
allele frequency: 3.556187766714083e-5
allele num: 112480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.922+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.922+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1036+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.922+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.922+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000465578
  gene symbol: FBLN1
  hgvsc: ENST00000465578.1:n.284G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000484531
  gene symbol: FBLN1
  hgvsc: ENST00000484531.1:n.306G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.492+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.922+50G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.549+50G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15985
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6026
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-45937061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937061
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937061
    reference: chr 22
allele count: 43333
allele frequency: 3.57244142525021e-1
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-48G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-48G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.25e1
  variant carriers: 1189
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 9.75e1
  variant carriers: 6076
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.25e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 719
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 5.75e1
  variant carriers: 3125
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 2.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 7.75e1
  variant carriers: 2779
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 5.25e1
  variant carriers: 2493
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 6.25e1
  variant carriers: 3465
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 9.25e1
  variant carriers: 1452
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 6.75e1
  variant carriers: 3367
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 8.25e1
  variant carriers: 2310
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 1895
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 1941
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 7.25e1
  variant carriers: 3186
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 14123
  bin: 6.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 5
num of homozygotes: 8360
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-45937063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937063
    reference: chr 22
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-46C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-46C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-45937067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937067
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937067
    reference: chr 22
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-42C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-42C>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

22-45937084-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937084
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937084
    reference: chr 22
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-25T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-25T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

22-45937089-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937089
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937089
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-20T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-20T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37867
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

22-45937096-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937096
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937096
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-13T>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-13T>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

22-45937101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937101
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937101
    reference: chr 22
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-8C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-8C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.923-8C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

22-45937102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937102
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937102
    reference: chr 22
allele count: 155
allele frequency: 1.276834110417319e-3
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-7G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-7G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: c.923-7G>A
num of homozygotes: 1
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-45937103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937103
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937103
    reference: chr 22
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-6C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-6C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: c.923-6C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

22-45937104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937104
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937104
    reference: chr 22
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.923-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.493-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.923-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.923-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.923-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1037-5T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.923-5T>C
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
hgvs: c.923-5T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-45937116-T-TCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937116
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937119
    reference: chr 22
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: TCCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.500_501insCCC
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.930_931insCCC
  hgvsp: ENSP00000331544.6:p.Asn310_Glu311insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.8_9insCCC
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.930_931insCCC
  hgvsp: ENSP00000342212.5:p.Asn310_Glu311insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1044_1045insCCC
  hgvsp: ENSP00000385521.3:p.Asn348_Glu349insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.930_931insCCC
  hgvsp: ENSP00000262722.7:p.Asn310_Glu311insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.930_931insCCC
  hgvsp: ENSP00000262723.5:p.Asn310_Glu311insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.930_931insCCC
  hgvsp: ENSP00000393812.2:p.Asn310_Glu311insPro
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*7_*8insCCC
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn310_Glu311insPro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-45937117-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937117
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937118
    reference: chr 22
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1045_1046insC
  hgvsp: ENSP00000385521.3:p.Glu349AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.931_932insC
  hgvsp: ENSP00000331544.6:p.Glu311AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*8_*9insC
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.931_932insC
  hgvsp: ENSP00000342212.5:p.Glu311AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.9_10insC
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.931_932insC
  hgvsp: ENSP00000262722.7:p.Glu311AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.931_932insC
  hgvsp: ENSP00000262723.5:p.Glu311AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.501_502insC
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.931_932insC
  hgvsp: ENSP00000393812.2:p.Glu311AlafsTer46
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu311AlafsTer46
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-45937118-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937118
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937118
    reference: chr 22
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.932A>T
  hgvsp: ENSP00000342212.5:p.Glu311Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.502A>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*9A>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1046A>T
  hgvsp: ENSP00000385521.3:p.Glu349Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.932A>T
  hgvsp: ENSP00000331544.6:p.Glu311Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.932A>T
  hgvsp: ENSP00000262723.5:p.Glu311Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.932A>T
  hgvsp: ENSP00000262722.7:p.Glu311Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.932A>T
  hgvsp: ENSP00000393812.2:p.Glu311Val
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.10A>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu311Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

22-45937143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937143
    reference: chr 22
allele count: 132
allele frequency: 1.087278837600079e-3
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1071C>T
  hgvsp: ENST00000402984.3:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.957C>T
  hgvsp: ENST00000262722.7:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.957C>T
  hgvsp: ENST00000327858.6:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.35C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.957C>T
  hgvsp: ENST00000340923.5:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.957C>T
  hgvsp: ENST00000442170.2:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.527C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.957C>T
  hgvsp: ENST00000348697.2:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 14501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys319Cys
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-45937149-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937149
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937149
    reference: chr 22
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.41C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.963C>G
  hgvsp: ENSP00000262722.7:p.Ile321Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1077C>G
  hgvsp: ENSP00000385521.3:p.Ile359Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*40C>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.963C>G
  hgvsp: ENSP00000393812.2:p.Ile321Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.963C>G
  hgvsp: ENSP00000262723.5:p.Ile321Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.963C>G
  hgvsp: ENSP00000342212.5:p.Ile321Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.963C>G
  hgvsp: ENSP00000331544.6:p.Ile321Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.533C>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile321Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

22-45937149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937149
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937149
    reference: chr 22
allele count: 43624
allele frequency: 3.593883872668556e-1
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.963C>T
  hgvsp: ENST00000327858.6:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.963C>T
  hgvsp: ENST00000262722.7:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.533C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.41C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.963C>T
  hgvsp: ENST00000348697.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.963C>T
  hgvsp: ENST00000340923.5:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1077C>T
  hgvsp: ENST00000402984.3:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.963C>T
  hgvsp: ENST00000442170.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 9.25e1
  variant carriers: 2414
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 1706
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 2415
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 8.25e1
  variant carriers: 2197
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 9.75e1
  variant carriers: 20084
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 1967
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 1247
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.75e1
  variant carriers: 678
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 998
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38893
  bin: 9.75e1
  variant carriers: 35111
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Ile321Ile
num of homozygotes: 8462
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

22-45937156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937156
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937156
    reference: chr 22
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1084A>G
  hgvsp: ENSP00000385521.3:p.Thr362Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.970A>G
  hgvsp: ENSP00000331544.6:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000460538
  gene symbol: FBLN1
  hgvsc: ENST00000460538.1:n.540A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.970A>G
  hgvsp: ENSP00000342212.5:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.970A>G
  hgvsp: ENSP00000262722.7:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.970A>G
  hgvsp: ENSP00000393812.2:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.970A>G
  hgvsp: ENSP00000262723.5:p.Thr324Ala
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*47A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.48A>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr324Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

22-45937184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937184
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937184
    reference: chr 22
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1112C>T
  hgvsp: ENSP00000385521.3:p.Thr371Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.998C>T
  hgvsp: ENSP00000393812.2:p.Thr333Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*75C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.998C>T
  hgvsp: ENSP00000331544.6:p.Thr333Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.998C>T
  hgvsp: ENSP00000342212.5:p.Thr333Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.998C>T
  hgvsp: ENSP00000262723.5:p.Thr333Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.998C>T
  hgvsp: ENSP00000262722.7:p.Thr333Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.76C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr333Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

22-45937185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937185
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937185
    reference: chr 22
allele count: 28
allele frequency: 2.306539038173221e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.999G>A
  hgvsp: ENST00000340923.5:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.999G>A
  hgvsp: ENST00000327858.6:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1113G>A
  hgvsp: ENST00000402984.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.999G>A
  hgvsp: ENST00000348697.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.999G>A
  hgvsp: ENST00000442170.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.999G>A
  hgvsp: ENST00000262722.7:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.77G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr333Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

22-45937194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937194
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937194
    reference: chr 22
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1008G>A
  hgvsp: ENST00000348697.2:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.86G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1122G>A
  hgvsp: ENST00000402984.3:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*85G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1008G>A
  hgvsp: ENST00000262722.7:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1008G>A
  hgvsp: ENST00000340923.5:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1008G>A
  hgvsp: ENST00000327858.6:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1008G>A
  hgvsp: ENST00000442170.2:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys336Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

22-45937198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937198
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937198
    reference: chr 22
allele count: 28
allele frequency: 2.306691051686356e-4
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1012G>A
  hgvsp: ENSP00000262723.5:p.Val338Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1012G>A
  hgvsp: ENSP00000262722.7:p.Val338Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1012G>A
  hgvsp: ENSP00000393812.2:p.Val338Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1012G>A
  hgvsp: ENSP00000331544.6:p.Val338Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1012G>A
  hgvsp: ENSP00000342212.5:p.Val338Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1126G>A
  hgvsp: ENSP00000385521.3:p.Val376Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.90G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val338Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

22-45937207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937207
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937207
    reference: chr 22
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1021T>C
  hgvsp: ENSP00000262723.5:p.Cys341Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.99T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1021T>C
  hgvsp: ENSP00000262722.7:p.Cys341Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1021T>C
  hgvsp: ENSP00000393812.2:p.Cys341Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1135T>C
  hgvsp: ENSP00000385521.3:p.Cys379Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1021T>C
  hgvsp: ENSP00000331544.6:p.Cys341Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1021T>C
  hgvsp: ENSP00000342212.5:p.Cys341Arg
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8699
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys341Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

22-45937214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937214
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937214
    reference: chr 22
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1028G>A
  hgvsp: ENSP00000262722.7:p.Arg343His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.106G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1028G>A
  hgvsp: ENSP00000331544.6:p.Arg343His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1028G>A
  hgvsp: ENSP00000393812.2:p.Arg343His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1142G>A
  hgvsp: ENSP00000385521.3:p.Arg381His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1028G>A
  hgvsp: ENSP00000262723.5:p.Arg343His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1028G>A
  hgvsp: ENSP00000342212.5:p.Arg343His
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg343His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

22-45937215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937215
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937215
    reference: chr 22
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1029T>C
  hgvsp: ENST00000340923.5:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*106T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1029T>C
  hgvsp: ENST00000262722.7:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1029T>C
  hgvsp: ENST00000348697.2:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1143T>C
  hgvsp: ENST00000402984.3:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.107T>C
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1029T>C
  hgvsp: ENST00000442170.2:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1029T>C
  hgvsp: ENST00000327858.6:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg343Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

22-45937223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937223
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937223
    reference: chr 22
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1037A>G
  hgvsp: ENSP00000331544.6:p.His346Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1037A>G
  hgvsp: ENSP00000342212.5:p.His346Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1037A>G
  hgvsp: ENSP00000393812.2:p.His346Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1037A>G
  hgvsp: ENSP00000262722.7:p.His346Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1037A>G
  hgvsp: ENSP00000262723.5:p.His346Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1151A>G
  hgvsp: ENSP00000385521.3:p.His384Arg
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.115A>G
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His346Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

22-45937227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937227
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1155C>T
  hgvsp: ENST00000402984.3:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1041C>T
  hgvsp: ENST00000262722.7:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1041C>T
  hgvsp: ENST00000442170.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1041C>T
  hgvsp: ENST00000340923.5:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1041C>T
  hgvsp: ENST00000327858.6:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.119C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1041C>T
  hgvsp: ENST00000348697.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu347Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-45937230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937230
    reference: chr 22
allele count: 11
allele frequency: 9.064987721062087e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1044C>T
  hgvsp: ENST00000327858.6:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1158C>T
  hgvsp: ENST00000402984.3:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1044C>T
  hgvsp: ENST00000262722.7:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1044C>T
  hgvsp: ENST00000348697.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1044C>T
  hgvsp: ENST00000442170.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1044C>T
  hgvsp: ENST00000340923.5:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.122C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*121C>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn348Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

22-45937231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937231
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937231
    reference: chr 22
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1159G>A
  hgvsp: ENSP00000385521.3:p.Glu387Lys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1045G>A
  hgvsp: ENSP00000262723.5:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1045G>A
  hgvsp: ENSP00000393812.2:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1045G>A
  hgvsp: ENSP00000262722.7:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.123G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1045G>A
  hgvsp: ENSP00000331544.6:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1045G>A
  hgvsp: ENSP00000342212.5:p.Glu349Lys
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu349Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

22-45937241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937241
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937241
    reference: chr 22
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1055C>T
  hgvsp: ENSP00000262723.5:p.Thr352Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1055C>T
  hgvsp: ENSP00000262722.7:p.Thr352Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1169C>T
  hgvsp: ENSP00000385521.3:p.Thr390Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.133C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1055C>T
  hgvsp: ENSP00000393812.2:p.Thr352Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1055C>T
  hgvsp: ENSP00000342212.5:p.Thr352Met
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1055C>T
  hgvsp: ENSP00000331544.6:p.Thr352Met
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr352Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

22-45937242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937242
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937242
    reference: chr 22
allele count: 6
allele frequency: 4.948535233570863e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.134G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1056G>A
  hgvsp: ENST00000340923.5:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1170G>A
  hgvsp: ENST00000402984.3:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1056G>A
  hgvsp: ENST00000327858.6:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*133G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1056G>A
  hgvsp: ENST00000262722.7:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1056G>A
  hgvsp: ENST00000442170.2:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1056G>A
  hgvsp: ENST00000348697.2:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8655
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Thr352Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-45937244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937244
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937244
    reference: chr 22
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1058G>A
  hgvsp: ENSP00000262723.5:p.Arg353His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1058G>A
  hgvsp: ENSP00000331544.6:p.Arg353His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1172G>A
  hgvsp: ENSP00000385521.3:p.Arg391His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1058G>A
  hgvsp: ENSP00000342212.5:p.Arg353His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1058G>A
  hgvsp: ENSP00000262722.7:p.Arg353His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1058G>A
  hgvsp: ENSP00000393812.2:p.Arg353His
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.136G>A
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg353His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

22-45937244-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45937244
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 45937244
    reference: chr 22
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262722
  ensembl transcript: ENST00000262722
  gene symbol: FBLN1
  hgvsc: ENST00000262722.7:c.1058G>T
  hgvsp: ENSP00000262722.7:p.Arg353Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000331544
  ensembl transcript: ENST00000327858
  gene symbol: FBLN1
  hgvsc: ENST00000327858.6:c.1058G>T
  hgvsp: ENSP00000331544.6:p.Arg353Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000342212
  ensembl transcript: ENST00000340923
  gene symbol: FBLN1
  hgvsc: ENST00000340923.5:c.1058G>T
  hgvsp: ENSP00000342212.5:p.Arg353Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000385521
  ensembl transcript: ENST00000402984
  gene symbol: FBLN1
  hgvsc: ENST00000402984.3:c.1172G>T
  hgvsp: ENSP00000385521.3:p.Arg391Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000393812
  ensembl transcript: ENST00000442170
  gene symbol: FBLN1
  hgvsc: ENST00000442170.2:c.1058G>T
  hgvsp: ENSP00000393812.2:p.Arg353Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000262723
  ensembl transcript: ENST00000348697
  gene symbol: FBLN1
  hgvsc: ENST00000348697.2:c.1058G>T
  hgvsp: ENSP00000262723.5:p.Arg353Leu
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077942
  ensembl protein: ENSP00000401077
  ensembl transcript: ENST00000437711
  gene symbol: FBLN1
  hgvsc: ENST00000437711.1:c.*135G>T
  variant of: http://identifiers.org/hgnc/3600
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077942
  ensembl transcript: ENST00000476366
  gene symbol: FBLN1
  hgvsc: ENST00000476366.1:n.136G>T
  variant of: http://identifiers.org/hgnc/3600
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg353Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 32906
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.534e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 2.065072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 2.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32906
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1651
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.065072e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 2.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.534e0

QD
type: SiteQuality
SIO_000300: 1.111e1

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

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

GenotypeQuality
all individuals: 32951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9886
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 9.587999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

DP
type: SiteQuality
SIO_000300: 2.064915e6

VQSLOD
type: SiteQuality
SIO_000300: -1.312e0

QD
type: SiteQuality
SIO_000300: 1.77e1

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

DP
type: SiteQuality
SIO_000300: 2.065088e6

FS
type: SiteQuality
SIO_000300: 4.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 5.53e0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9882
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9100
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.55e0

DP
type: SiteQuality
SIO_000300: 2.065069e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.029e0

QD
type: SiteQuality
SIO_000300: 1.531e1

VQSLOD
type: SiteQuality
SIO_000300: -5.554e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 9099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 2.065301e6

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 32993
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.064874e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 4.369e0

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 2.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.064726e6

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 1
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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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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2593
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variant carriers: 0

GenotypeQuality
all individuals: 32990
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.554e-1

DP
type: SiteQuality
SIO_000300: 2.06467e6

FS
type: SiteQuality
SIO_000300: 6.887e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 3.228e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.064655e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2917
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

FS
type: SiteQuality
SIO_000300: 3.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.623e0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1639
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.6388e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.165e0

DP
type: SiteQuality
SIO_000300: 2.063513e6

QD
type: SiteQuality
SIO_000300: 2.943e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 9078
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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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
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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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bin: 2.75e1
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493330935467435e-5
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

FS
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.063379e6

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.207e1

FS
type: SiteQuality
SIO_000300: 3.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 2.06305e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.876e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9849
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.062856e6

QD
type: SiteQuality
SIO_000300: 1.601e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.036e0

MQRankSum
type: SiteQuality
SIO_000300: -1.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.394e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9835
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 2.060874e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 1.672e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.904e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.059596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.547e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

VQSLOD
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QD
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SIO_000300: 1.593e1

MQRankSum
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SIO_000300: -1.159e0

ClippingRankSum
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SIO_000300: -1.972e0

MQ
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SIO_000300: 6.037e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.058545e6

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

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 29
allele frequency: 3.3603707995365e-3
allele num: 8630
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 4.23e0

FS
type: SiteQuality
SIO_000300: 6.08e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 2.26e0

ClippingRankSum
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SIO_000300: 6.5e-2

VQSLOD
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-4

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 2.049438e6

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
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Other
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allele frequency: 0.0e0
allele num: 902
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East Asian
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allele frequency: 0.0e0
allele num: 8604
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VQSLOD
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SIO_000300: 3.37e0

ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.0e-4

QD
type: SiteQuality
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DP
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SIO_000300: 2.036493e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
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allele frequency: 1.827708054100158e-4
allele num: 16414
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
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allele frequency: 0.0e0
allele num: 10370
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
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FS
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SIO_000300: 4.517e0

QD
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ReadPosRankSum
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MQRankSum
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MQ
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SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.535e0

DP
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SIO_000300: 2.028515e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 8.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.994e-1

BaseQRankSum
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SIO_000300: -2.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

DP
type: SiteQuality
SIO_000300: 2.022004e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 114

GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 5
allele frequency: 4.367575122292103e-4
allele num: 11448
num of homozygotes: 0

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

African
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allele count: 110
allele frequency: 1.064241486068111e-2
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66116
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DP
type: SiteQuality
SIO_000300: 1.981387e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 1
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allele num: 896
num of homozygotes: 0

South Asian
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allele num: 16340
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Latino
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allele frequency: 6.147900930967855e-4
allele num: 11386
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65900
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African
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allele frequency: 9.710623422023694e-5
allele num: 10298
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East Asian
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -3.31e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

African
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allele num: 10274
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
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East Asian
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Latino
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Other
type: Population
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MQRankSum
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FS
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MQ
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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 frequency: 0.0e0
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South Asian
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num of homozygotes: 0

East Asian
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African
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.039421294185587e-5
allele num: 65802
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Other
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1822
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-4
allele num: 6548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

DP
type: SiteQuality
SIO_000300: 1.886009e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 6.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.114e0

QD
type: SiteQuality
SIO_000300: 2.797e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040807638508788e-5
allele num: 65772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.419e0

FS
type: SiteQuality
SIO_000300: 2.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.856663e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 1209
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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: 39

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 35
allele frequency: 4.159733777038269e-3
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.841846758349705e-4
allele num: 16288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 1.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.798221e6

GenotypeQuality
all individuals: 2668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9769
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variant carriers: 111

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18937
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variant carriers: 0

GenotypeQuality
all individuals: 4801
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 104
allele frequency: 1.017413422030914e-2
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526577718071627e-5
allele num: 65506
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.42008486562942e-4
allele num: 11312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 4.119e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.794702e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 4758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 1871
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 767
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GenotypeQuality
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GenotypeQuality
all individuals: 17123
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GenotypeQuality
all individuals: 9663
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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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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527090587013621e-5
allele num: 65484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 1.767267e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 4.502e0

GenotypeQuality
all individuals: 5850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
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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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.815e0

DP
type: SiteQuality
SIO_000300: 1.715493e6

VQSLOD
type: SiteQuality
SIO_000300: -1.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 2.818e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6049
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GenotypeQuality
all individuals: 3366
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.663898387884709e-4
allele num: 8188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.708798e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.757e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 1821
bin: 3.25e1
variant carriers: 1524

GenotypeQuality
all individuals: 3366
bin: 6.75e1
variant carriers: 3241

GenotypeQuality
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bin: 4.75e1
variant carriers: 3364

GenotypeQuality
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variant carriers: 859

GenotypeQuality
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variant carriers: 190

GenotypeQuality
all individuals: 791
bin: 2.75e1
variant carriers: 603

GenotypeQuality
all individuals: 1922
bin: 5.75e1
variant carriers: 1894

GenotypeQuality
all individuals: 1864
bin: 8.25e1
variant carriers: 1832

GenotypeQuality
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bin: 7.25e1
variant carriers: 1486

GenotypeQuality
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variant carriers: 2239

GenotypeQuality
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variant carriers: 154

GenotypeQuality
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variant carriers: 340

GenotypeQuality
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variant carriers: 597

GenotypeQuality
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variant carriers: 26739

GenotypeQuality
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variant carriers: 1539

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 1192

GenotypeQuality
all individuals: 2710
bin: 3.75e1
variant carriers: 2379

European (Non-Finnish)
type: Population
allele count: 53534
allele frequency: 8.363642044744407e-1
allele num: 64008
num of homozygotes: 22325

East Asian
type: Population
allele count: 6414
allele frequency: 7.912657290895633e-1
allele num: 8106
num of homozygotes: 2548

Latino
type: Population
allele count: 6216
allele frequency: 5.677749360613811e-1
allele num: 10948
num of homozygotes: 1733

South Asian
type: Population
allele count: 13814
allele frequency: 8.556739345887017e-1
allele num: 16144
num of homozygotes: 5925

Other
type: Population
allele count: 699
allele frequency: 7.943181818181818e-1
allele num: 880
num of homozygotes: 279

European (Finnish)
type: Population
allele count: 5593
allele frequency: 8.769206647851991e-1
allele num: 6378
num of homozygotes: 2452

African
type: Population
allele count: 7096
allele frequency: 7.098839535814325e-1
allele num: 9996
num of homozygotes: 2506

QD
type: SiteQuality
SIO_000300: 2.77e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.873138e6

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
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GenotypeQuality
all individuals: 3679
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GenotypeQuality
all individuals: 7543
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variant carriers: 0

GenotypeQuality
all individuals: 795
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GenotypeQuality
all individuals: 5935
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variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 6.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 835
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variant carriers: 0

GenotypeQuality
all individuals: 538
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621165942545879e-5
allele num: 61684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 2.023e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.639448e6

QD
type: SiteQuality
SIO_000300: 2.223e1

GenotypeQuality
all individuals: 3566
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
all individuals: 1132
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GenotypeQuality
all individuals: 4958
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.064409578860446e-4
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622375807131964e-5
allele num: 61638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.368559115608019e-5
allele num: 10674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 7.461e0

DP
type: SiteQuality
SIO_000300: 1.636368e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

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
all individuals: 37
bin: 3.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 3308
allele frequency: 5.010602847621932e-1
allele num: 6602
num of homozygotes: 821

Latino
type: Population
allele count: 2609
allele frequency: 2.255359612724758e-1
allele num: 11568
num of homozygotes: 335

African
type: Population
allele count: 2501
allele frequency: 2.404807692307692e-1
allele num: 10400
num of homozygotes: 288

South Asian
type: Population
allele count: 4807
allele frequency: 2.912274324488065e-1
allele num: 16506
num of homozygotes: 739

East Asian
type: Population
allele count: 1531
allele frequency: 1.772811486799444e-1
allele num: 8636
num of homozygotes: 136

European (Non-Finnish)
type: Population
allele count: 28222
allele frequency: 4.232326564890075e-1
allele num: 66682
num of homozygotes: 5967

Other
type: Population
allele count: 355
allele frequency: 3.926991150442478e-1
allele num: 904
num of homozygotes: 74

BaseQRankSum
type: SiteQuality
SIO_000300: -2.405e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 3.507462e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.876e1

GenotypeQuality
all individuals: 1495
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 3556
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.969e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 3.565779e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 1497
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.565971e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.885e0

QD
type: SiteQuality
SIO_000300: 1.71e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 1.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1504
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GenotypeQuality
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GenotypeQuality
all individuals: 707
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GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.015000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

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
all individuals: 9
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GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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MQRankSum
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.21e-1

MQ
type: SiteQuality
SIO_000300: 5.822e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.567168e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1070
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GenotypeQuality
all individuals: 37868
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 3.567529e6

FS
type: SiteQuality
SIO_000300: 2.921e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.065e1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37883
bin: 9.75e1
variant carriers: 154

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 126
allele frequency: 1.211072664359862e-2
allele num: 10404
num of homozygotes: 1

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493106342165208e-5
allele num: 66728
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.192e0

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

DP
type: SiteQuality
SIO_000300: 3.57432e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

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

GenotypeQuality
all individuals: 7
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.218e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 3.572147e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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
all individuals: 1508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 3.572156e6

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37870
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 706
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.931999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e0

DP
type: SiteQuality
SIO_000300: 3.572219e6

MQ
type: SiteQuality
SIO_000300: 5.566e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 3.99e0

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

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 1071
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 949
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 706
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 3.572327e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.409e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

QD
type: SiteQuality
SIO_000300: 3.99e0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14515
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1506
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 1.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 3.572314e6

VQSLOD
type: SiteQuality
SIO_000300: -3.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37879
bin: 9.75e1
variant carriers: 131

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 126
allele frequency: 1.210839900057659e-2
allele num: 10406
num of homozygotes: 1

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 4.061e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 3.572518e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.288e1

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

GenotypeQuality
all individuals: 38893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.757e0

QD
type: SiteQuality
SIO_000300: 1.874e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 4.790336e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3454
bin: 6.75e1
variant carriers: 4

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 14344
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 975
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 28390
allele frequency: 4.254330755859258e-1
allele num: 66732
num of homozygotes: 6033

Latino
type: Population
allele count: 2626
allele frequency: 2.268094662290551e-1
allele num: 11578
num of homozygotes: 340

Other
type: Population
allele count: 367
allele frequency: 4.041850220264317e-1
allele num: 908
num of homozygotes: 79

African
type: Population
allele count: 2525
allele frequency: 2.426951172625913e-1
allele num: 10404
num of homozygotes: 293

South Asian
type: Population
allele count: 4876
allele frequency: 2.953003875968992e-1
allele num: 16512
num of homozygotes: 758

European (Finnish)
type: Population
allele count: 3309
allele frequency: 5.007566585956417e-1
allele num: 6608
num of homozygotes: 823

East Asian
type: Population
allele count: 1531
allele frequency: 1.771580652626707e-1
allele num: 8642
num of homozygotes: 136

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

QD
type: SiteQuality
SIO_000300: 1.874e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 4.790336e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 8762
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34094
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1934
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.461e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

DP
type: SiteQuality
SIO_000300: 2.080568e6

FS
type: SiteQuality
SIO_000300: 8.84e-1

QD
type: SiteQuality
SIO_000300: 1.803e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 34137
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variant carriers: 0

GenotypeQuality
all individuals: 8742
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.090614886731392e-4
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.079782e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

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

GenotypeQuality
all individuals: 2410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34150
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 805
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1167
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variant carriers: 0

GenotypeQuality
all individuals: 8734
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 8314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.046034885811904e-4
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.079631e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.728e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

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

GenotypeQuality
all individuals: 3149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34169
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 803
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variant carriers: 0

GenotypeQuality
all individuals: 8721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.483e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 2.077195e6

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1165
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variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8721
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 34160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049003446725611e-4
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090248334342823e-3
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.077144e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.075345e6

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 2.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.66e0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1925
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 8305
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 2.07492e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 3.8e0

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1159
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.22e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
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SIO_000300: 2.073882e6

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.024e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 1.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.418e0

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 2.073856e6

GenotypeQuality
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bin: 9.25e1
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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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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.073597e6

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 1.084e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.02e0

DP
type: SiteQuality
SIO_000300: 2.073079e6

QD
type: SiteQuality
SIO_000300: 1.23e1

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.311e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.070558e6

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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.22e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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East Asian
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African
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allele frequency: 9.626492106276473e-5
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
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FS
type: SiteQuality
SIO_000300: 2.284e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.068424e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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