15-72978600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978600
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978600
    reference: chr 15
allele count: 29
allele frequency: 1.25118646992838e-3
allele num: 23178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.32C>T
  hgvsp: ENSP00000454718.1:p.Ala11Val
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+8C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24752
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22037
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

15-72978601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978601
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978601
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 23126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.33C>T
  hgvsp: ENST00000562084.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+9C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+9C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22074
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24722
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

15-72978608-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978608
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978608
    reference: chr 15
allele count: 2
allele frequency: 8.703977717817043e-5
allele num: 22978
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.40C>G
  hgvsp: ENSP00000454718.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+16C>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu14Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

15-72978608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978608
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978608
    reference: chr 15
allele count: 1
allele frequency: 4.351988858908521e-5
allele num: 22978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.40C>T
  hgvsp: ENSP00000454718.1:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+16C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu14Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

15-72978610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978610
    reference: chr 15
allele count: 3
allele frequency: 1.315097317201473e-4
allele num: 22812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.42C>G
  hgvsp: ENST00000562084.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+18C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+18C>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27040
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19425
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu14Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

15-72978618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978618
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978618
    reference: chr 15
allele count: 2
allele frequency: 8.926180487369455e-5
allele num: 22406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.50G>A
  hgvsp: ENSP00000454718.1:p.Cys17Tyr
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+26G>A
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29012
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys17Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

15-72978619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978619
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978619
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 22354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.51C>T
  hgvsp: ENST00000562084.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+27C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys17Cys
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: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

15-72978622-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978622
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978622
    reference: chr 15
allele count: 43
allele frequency: 1.947816633448088e-3
allele num: 22076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.54G>T
  hgvsp: ENST00000562084.1:c.54G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+30G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+30G>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30440
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro18Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

15-72978625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978625
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978625
    reference: chr 15
allele count: 19
allele frequency: 8.604293089394077e-4
allele num: 22082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.57C>T
  hgvsp: ENST00000562084.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+33C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+33C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31086
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14673
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala19Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

15-72978636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978636
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978636
    reference: chr 15
allele count: 1
allele frequency: 4.770082045411181e-5
allele num: 20964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.68G>A
  hgvsp: ENSP00000454718.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+44G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+44G>A
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

15-72978652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978652
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978652
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 19650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.84C>T
  hgvsp: ENST00000562084.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+60C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+60C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly28Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

15-72978663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978663
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978663
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 18954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.95T>C
  hgvsp: ENSP00000454718.1:p.Met32Thr
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+71T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+71T>C
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met32Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

15-72978669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978669
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978669
    reference: chr 15
allele count: 1
allele frequency: 5.444250871080139e-5
allele num: 18368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.101G>A
  hgvsp: ENSP00000454718.1:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+77G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+77G>A
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg34Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

15-72978686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978686
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978686
    reference: chr 15
allele count: 3
allele frequency: 1.726519337016575e-4
allele num: 17376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.118G>T
  hgvsp: ENSP00000454718.1:p.Gly40Ter
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+94G>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly40Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

15-72978698-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978698
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978698
    reference: chr 15
allele count: 6
allele frequency: 3.593675131768088e-4
allele num: 16696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.130C>G
  hgvsp: ENSP00000454718.1:p.Arg44Gly
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-105C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+106C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+106C>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24218
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg44Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

15-72978701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978701
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978701
    reference: chr 15
allele count: 1
allele frequency: 6.048874909266876e-5
allele num: 16532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.133G>A
  hgvsp: ENSP00000454718.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-102G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+109G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+109G>A
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala45Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

15-72978724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978724
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978724
    reference: chr 15
allele count: 9
allele frequency: 5.968169761273209e-4
allele num: 15080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-79C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.156C>T
  hgvsp: ENST00000562084.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+132C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+132C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp52Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

15-72978749-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978749
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978749
    reference: chr 15
allele count: 1
allele frequency: 7.154099298898269e-5
allele num: 13978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.181G>C
  hgvsp: ENSP00000454718.1:p.Glu61Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-109G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-54G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+157G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+157G>C
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu61Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

15-72978759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978759
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978759
    reference: chr 15
allele count: 1
allele frequency: 7.331378299120235e-5
allele num: 13640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.191C>T
  hgvsp: ENSP00000454718.1:p.Ala64Val
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-99C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-44C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+167C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+167C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala64Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

15-72978768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978768
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978768
    reference: chr 15
allele count: 1
allele frequency: 7.44490768314473e-5
allele num: 13432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.200A>G
  hgvsp: ENSP00000454718.1:p.Lys67Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.25-35A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+176A>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys67Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

15-72978818-T-TAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978818
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978821
    reference: chr 15
allele count: 1
allele frequency: 7.867820613690008e-5
allele num: 12710
alternate allele: TAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+226_-446+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.40_41insAGA
  hgvsp: ENSP00000457753.1:p.Trp14delinsTer
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-40_-39insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+226_-71+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*16_*17insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+226_15+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+226_24+227insAGA
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp14delinsTer
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-72978837-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978837
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978837
    reference: chr 15
allele count: 46
allele frequency: 3.673534579140712e-3
allele num: 12522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.59A>C
  hgvsp: ENSP00000457753.1:p.Glu20Ala
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+245A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*35A>C
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Glu20Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

15-72978857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978857
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978857
    reference: chr 15
allele count: 1
allele frequency: 8.042464211034261e-5
allele num: 12434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.79A>G
  hgvsp: ENSP00000457753.1:p.Asn27Asp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+265A>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn27Asp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

15-72978890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978890
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978890
    reference: chr 15
allele count: 6
allele frequency: 4.849660523763337e-4
allele num: 12372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*88C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.33C>G
  hgvsp: ENST00000395205.2:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.33C>G
  hgvsp: ENST00000566829.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.112C>G
  hgvsp: ENSP00000457753.1:p.Leu38Val
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+298C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+298C>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu38Val
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

15-72978897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978897
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978897
    reference: chr 15
allele count: 1
allele frequency: 8.09192425958893e-5
allele num: 12358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*95G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.40G>C
  hgvsp: ENSP00000455958.1:p.Val14Leu
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.40G>C
  hgvsp: ENSP00000378631.2:p.Val14Leu
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.119G>C
  hgvsp: ENSP00000457753.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+305G>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+305G>C
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val14Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

15-72978913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978913
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978913
    reference: chr 15
allele count: 10
allele frequency: 8.103727714748784e-4
allele num: 12340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*103+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.48+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.127+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.48+8C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+321C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+321C>T
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.48+8C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

15-72978933-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978933
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978933
    reference: chr 15
allele count: 1
allele frequency: 8.102414519526819e-5
allele num: 12342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.48+28T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*103+28T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.48+28T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.127+28T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+341T>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

15-72978933-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72978933
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72978932
    reference: chr 15
allele count: 19
allele frequency: 1.539458758710096e-3
allele num: 12342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*103+30delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.48+30delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.15+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-71+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.127+30delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.24+343delC
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.48+30delC
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: TC
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-72987470-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987470
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987470
    reference: chr 15
allele count: 2
allele frequency: 1.659916340216453e-5
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.128-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.49-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*104-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8878C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.25-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.49-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.25-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.25-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8878C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.92-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-70-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8878C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.25-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.25-48C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.16-48C>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

15-72987471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987471
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987471
    reference: chr 15
allele count: 5
allele frequency: 4.146487096132157e-5
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.25-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.25-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8879A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8879A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.49-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.49-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-70-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.128-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8879A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.16-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.92-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*104-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.25-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.25-47A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.25-47A>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

15-72987472-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987472
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987472
    reference: chr 15
allele count: 3
allele frequency: 2.48719096652241e-5
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*104-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.25-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.25-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8880A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.49-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.25-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-70-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.49-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.16-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.25-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8880A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.128-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.25-46A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8880A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.92-46A>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

15-72987500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987500
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987500
    reference: chr 15
allele count: 5
allele frequency: 4.130729321569016e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-70-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.25-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8908C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.92-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8908C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.128-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.25-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.49-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.25-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*104-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.49-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.25-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.25-18C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8908C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.16-18C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-72987507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987507
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987507
    reference: chr 15
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.49-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.25-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.49-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.92-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.25-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*104-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8915T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8915T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.25-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.25-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-70-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.25-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.16-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.128-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8915T>C
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

15-72987520-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987520
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987520
    reference: chr 15
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.27A>T
  hgvsp: ENSP00000456664.1:p.Arg9Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8928A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.27A>T
  hgvsp: ENSP00000455412.1:p.Arg9Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8928A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.18A>T
  hgvsp: ENSP00000456758.1:p.Arg6Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.130A>T
  hgvsp: ENSP00000457753.1:p.Asn44Tyr
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.51A>T
  hgvsp: ENSP00000378631.2:p.Arg17Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*106A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8928A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.27A>T
  hgvsp: ENSP00000457958.1:p.Arg9Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.27A>T
  hgvsp: ENSP00000457795.1:p.Arg9Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-68A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.27A>T
  hgvsp: ENSP00000268057.4:p.Arg9Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.94A>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.51A>T
  hgvsp: ENSP00000455958.1:p.Arg17Ser
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg9Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

15-72987530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987530
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987530
    reference: chr 15
allele count: 150
allele frequency: 1.237542076430599e-3
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8938C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.61C>T
  hgvsp: ENSP00000378631.2:p.Pro21Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.104C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.37C>T
  hgvsp: ENSP00000268057.4:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.37C>T
  hgvsp: ENSP00000457795.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.61C>T
  hgvsp: ENSP00000455958.1:p.Pro21Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.140C>T
  hgvsp: ENSP00000457753.1:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.28C>T
  hgvsp: ENSP00000456758.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8938C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.37C>T
  hgvsp: ENSP00000456664.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.37C>T
  hgvsp: ENSP00000455412.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.37C>T
  hgvsp: ENSP00000457958.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8938C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro13Ser
num of homozygotes: 2
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-72987533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987533
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987533
    reference: chr 15
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.40G>A
  hgvsp: ENSP00000455412.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8941G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*119G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.31G>A
  hgvsp: ENSP00000456758.1:p.Val11Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.40G>A
  hgvsp: ENSP00000457795.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.64G>A
  hgvsp: ENSP00000378631.2:p.Val22Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.40G>A
  hgvsp: ENSP00000457958.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.143G>A
  hgvsp: ENSP00000457753.1:p.Cys48Tyr
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.40G>A
  hgvsp: ENSP00000268057.4:p.Val14Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.64G>A
  hgvsp: ENSP00000455958.1:p.Val22Ile
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8941G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-55G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.107G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8941G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.40G>A
  hgvsp: ENSP00000456664.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val14Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-72987535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987535
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987535
    reference: chr 15
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.42A>G
  hgvsp: ENST00000567279.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.42A>G
  hgvsp: ENST00000569440.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.42A>G
  hgvsp: ENST00000268057.4:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8943A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.109A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-53A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.42A>G
  hgvsp: ENST00000561914.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.66A>G
  hgvsp: ENST00000566829.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.42A>G
  hgvsp: ENST00000565160.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.66A>G
  hgvsp: ENST00000395205.2:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.145A>G
  hgvsp: ENSP00000457753.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8943A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8943A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.33A>G
  hgvsp: ENST00000569338.1:c.33A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*121A>G
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile49Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-72987549-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987549
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987549
    reference: chr 15
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8957A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*135A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.56A>C
  hgvsp: ENSP00000457958.1:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.56A>C
  hgvsp: ENSP00000457795.1:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.56A>C
  hgvsp: ENSP00000268057.4:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*6A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-39A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.56A>C
  hgvsp: ENSP00000455412.1:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.47A>C
  hgvsp: ENSP00000456758.1:p.Gln16Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.80A>C
  hgvsp: ENSP00000455958.1:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8957A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.80A>C
  hgvsp: ENSP00000378631.2:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.123A>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.56A>C
  hgvsp: ENSP00000456664.1:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8957A>C
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln19Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

15-72987556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987556
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987556
    reference: chr 15
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.63C>T
  hgvsp: ENST00000561914.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.87C>T
  hgvsp: ENST00000395205.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.87C>T
  hgvsp: ENST00000566829.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.63C>T
  hgvsp: ENST00000268057.4:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.130C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.63C>T
  hgvsp: ENST00000569440.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.63C>T
  hgvsp: ENST00000567279.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8964C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.54C>T
  hgvsp: ENST00000569338.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8964C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8964C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.63C>T
  hgvsp: ENST00000565160.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro21Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

15-72987557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987557
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987557
    reference: chr 15
allele count: 10
allele frequency: 8.251642076773278e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8965C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.64C>T
  hgvsp: ENSP00000455412.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.131C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.64C>T
  hgvsp: ENSP00000457795.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.64C>T
  hgvsp: ENSP00000457958.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.88C>T
  hgvsp: ENSP00000455958.1:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.55C>T
  hgvsp: ENSP00000456758.1:p.Arg19Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8965C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.64C>T
  hgvsp: ENSP00000456664.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.64C>T
  hgvsp: ENSP00000268057.4:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8965C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.88C>T
  hgvsp: ENSP00000378631.2:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg22Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-72987558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987558
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987558
    reference: chr 15
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.89G>A
  hgvsp: ENSP00000455958.1:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.65G>A
  hgvsp: ENSP00000268057.4:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.89G>A
  hgvsp: ENSP00000378631.2:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8966G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.132G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8966G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.56G>A
  hgvsp: ENSP00000456758.1:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.65G>A
  hgvsp: ENSP00000457795.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.65G>A
  hgvsp: ENSP00000457958.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.65G>A
  hgvsp: ENSP00000456664.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8966G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.65G>A
  hgvsp: ENSP00000455412.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg22Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

15-72987564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987564
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987564
    reference: chr 15
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.62A>G
  hgvsp: ENSP00000456758.1:p.Lys21Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-24A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8972A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.71A>G
  hgvsp: ENSP00000457795.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.95A>G
  hgvsp: ENSP00000455958.1:p.Lys32Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.71A>G
  hgvsp: ENSP00000268057.4:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.71A>G
  hgvsp: ENSP00000457958.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8972A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8972A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.95A>G
  hgvsp: ENSP00000378631.2:p.Lys32Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*150A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.138A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.71A>G
  hgvsp: ENSP00000456664.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.71A>G
  hgvsp: ENSP00000455412.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys24Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

15-72987568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987568
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987568
    reference: chr 15
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.99A>G
  hgvsp: ENST00000395205.2:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.99A>G
  hgvsp: ENST00000566829.1:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8976A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.75A>G
  hgvsp: ENST00000268057.4:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8976A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*154A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-20A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8976A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.75A>G
  hgvsp: ENST00000567279.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.75A>G
  hgvsp: ENST00000565160.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.75A>G
  hgvsp: ENST00000569440.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.75A>G
  hgvsp: ENST00000561914.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.66A>G
  hgvsp: ENST00000569338.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.142A>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.75A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-72987571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987571
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987571
    reference: chr 15
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8979T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8979T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8979T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+2T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2T>C
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.76+2T>C
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

15-72987585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987585
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987585
    reference: chr 15
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8993C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8993C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8993C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+16C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+16C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

15-72987586-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987586
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987587
    reference: chr 15
allele count: 8
allele frequency: 6.603493247928155e-5
allele num: 121148
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8995dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+18dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8995dupT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8995dupT
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

15-72987588-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987588
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987588
    reference: chr 15
allele count: 119162
allele frequency: 9.832821731524574e-1
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+8996G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+8996G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+8996G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+19G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+19G>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 1609
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 8.75e1
  variant carriers: 3864
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 8.25e1
  variant carriers: 4273
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 965
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.25e1
  variant carriers: 3043
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 4598
genotype quality: GenotypeQuality
num of homozygotes: 58756
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

15-72987593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987593
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987593
    reference: chr 15
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9001G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9001G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+24G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9001G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+24G>A
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

15-72987594-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987594
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987594
    reference: chr 15
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9002T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9002T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9002T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+25T>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+25T>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

15-72987595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987595
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987595
    reference: chr 15
allele count: 23
allele frequency: 1.901612236461348e-4
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+26G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9003G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9003G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9003G>A
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

15-72987599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987599
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987599
    reference: chr 15
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9007G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9007G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+30G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9007G>A
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

15-72987603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987603
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987603
    reference: chr 15
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9011G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9011G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+34G>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9011G>A
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-72987604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987604
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987604
    reference: chr 15
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9012C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9012C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+35C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9012C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

15-72987605-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987605
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987605
    reference: chr 15
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9013A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9013A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+36A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9013A>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

15-72987606-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987606
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987606
    reference: chr 15
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9014C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9014C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9014C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+37C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+37C>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

15-72987613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987613
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987613
    reference: chr 15
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9021A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9021A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+44A>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9021A>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

15-72987615-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987615
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987613
    reference: chr 15
allele count: 2
allele frequency: 1.68168976187273e-5
allele num: 118928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+50_*26+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+50_76+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9027_24+9028delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+50_100+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+50_76+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+50_100+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+50_67+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9027_-446+9028delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+50_76+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+50_143+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+50_-19+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+50_76+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+50_*155+51delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9027_24+9028delCT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+50_76+51delCT
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TTC
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

15-72987620-T-TTTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987620
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987624
    reference: chr 15
allele count: 8
allele frequency: 6.883733737179046e-5
allele num: 116216
alternate allele: TTTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+67_100+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+67_100+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+67_*155+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9044_24+9047dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+67_76+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+67_143+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+67_76+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+67_-19+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+67_67+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+67_*26+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+67_76+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9044_-446+9047dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+67_76+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+67_76+70dupATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9044_24+9047dupATTT
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

15-72987620-TTTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987620
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987616
    reference: chr 15
allele count: 6
allele frequency: 5.162800302884284e-5
allele num: 116216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9044_-446+9047delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+67_76+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+67_-19+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9044_24+9047delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+67_76+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+67_*26+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+67_*155+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+67_143+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+67_100+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+67_100+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+67_76+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+67_76+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9044_24+9047delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+67_76+70delATTT
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+67_67+70delATTT
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TTTTA
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

15-72987621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72987621
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72987621
    reference: chr 15
allele count: 1
allele frequency: 9.285223495329533e-6
allele num: 107698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+9029T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+9029T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+9029T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.76+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+52T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+52T>C
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-72990284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72990284
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72990284
    reference: chr 15
allele count: 7
allele frequency: 6.501950585175553e-4
allele num: 10766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+11692C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+11692C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+11692C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2715C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.77-49C>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2715C>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

15-72990313-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72990313
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72990313
    reference: chr 15
allele count: 14
allele frequency: 1.300873443597844e-3
allele num: 10762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+11721G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+11721G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.77-20G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2744G>T
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+11721G>T
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

15-72990316-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72990316
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72990316
    reference: chr 15
allele count: 2
allele frequency: 1.858390633711206e-4
allele num: 10762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.24+11724C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.77-17C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-446+11724C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.24+11724C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2747C>G
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2747C>G
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-72990322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72990322
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72990322
    reference: chr 15
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.77-11T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.25-11719T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.25-11719T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-445-11719T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2753T>C
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2753T>C
  variant of: http://identifiers.org/hgnc/969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/15-72990344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72990344
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 72990344
    reference: chr 15
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000378631
  ensembl transcript: ENST00000395205
  gene symbol: BBS4
  hgvsc: ENST00000395205.2:c.100+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000454718
  ensembl transcript: ENST00000562084
  gene symbol: BBS4
  hgvsc: ENST00000562084.1:c.*155+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455958
  ensembl transcript: ENST00000566829
  gene symbol: BBS4
  hgvsc: ENST00000566829.1:c.100+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456664
  ensembl transcript: ENST00000567279
  gene symbol: BBS4
  hgvsc: ENST00000567279.1:c.76+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000445964
  ensembl transcript: ENST00000542334
  gene symbol: BBS4
  hgvsc: ENST00000542334.1:c.-445-11697C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000455412
  ensembl transcript: ENST00000565160
  gene symbol: BBS4
  hgvsc: ENST00000565160.1:c.76+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457958
  ensembl transcript: ENST00000569440
  gene symbol: BBS4
  hgvsc: ENST00000569440.1:c.88C>A
  hgvsp: ENSP00000457958.1:p.Leu30Met
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457753
  ensembl transcript: ENST00000563600
  gene symbol: BBS4
  hgvsc: ENST00000563600.1:c.*26+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl transcript: ENST00000564239
  gene symbol: BBS4
  hgvsc: ENST00000564239.1:n.143+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000457795
  ensembl transcript: ENST00000561914
  gene symbol: BBS4
  hgvsc: ENST00000561914.1:c.76+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456758
  ensembl transcript: ENST00000569338
  gene symbol: BBS4
  hgvsc: ENST00000569338.1:c.67+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000268057
  ensembl transcript: ENST00000268057
  gene symbol: BBS4
  hgvsc: ENST00000268057.4:c.76+2775C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456759
  ensembl transcript: ENST00000566400
  gene symbol: BBS4
  hgvsc: ENST00000566400.1:c.25-11697C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000456463
  ensembl transcript: ENST00000566938
  gene symbol: BBS4
  hgvsc: ENST00000566938.1:c.25-11697C>A
  variant of: http://identifiers.org/hgnc/969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140463
  ensembl protein: ENSP00000442492
  ensembl transcript: ENST00000539603
  gene symbol: BBS4
  hgvsc: ENST00000539603.1:c.-19+2775C>A
  variant of: http://identifiers.org/hgnc/969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu30Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2252
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2828
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 24238
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 964
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19326
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3870
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 893
bin: 6.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.494060097833683e-4
allele num: 2862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 2.839756592292089e-2
allele num: 986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.73954e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.053e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.51e-2

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24302
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 19747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.74173e5

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.261e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

FS
type: SiteQuality
SIO_000300: 8.769e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 150
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1516
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25986
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.956564273136372e-4
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 2.755e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 5.62671e5

GenotypeDepth
all individuals: 924
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25986
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

FS
type: SiteQuality
SIO_000300: 2.755e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 5.62671e5

GenotypeDepth
all individuals: 1173
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3652
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 17009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1018
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26634
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 3
allele frequency: 1.060820367751061e-3
allele num: 2828
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
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SIO_000300: 7.27e-1

BaseQRankSum
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SIO_000300: -3.6e-1

ReadPosRankSum
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SIO_000300: 2.13e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 4.02e-2

FS
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SIO_000300: 8.9e0

MQRankSum
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SIO_000300: 6.36e-1

DP
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SIO_000300: 5.57029e5

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.348e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.035830618892508e-4
allele num: 9824
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 5.29e-1

ReadPosRankSum
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SIO_000300: 5.56e-1

BaseQRankSum
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SIO_000300: -4.6e-1

QD
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MQ
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ClippingRankSum
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SIO_000300: 2.12e-1

MQRankSum
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SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 1.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

DP
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SIO_000300: 5.40233e5

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.187e0

ClippingRankSum
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SIO_000300: 7.62e-1

MQRankSum
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SIO_000300: -1.666e0

FS
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.666e0

ReadPosRankSum
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SIO_000300: -6.7e-2

InbreedingCoeff
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SIO_000300: -5.65e-2

QD
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SIO_000300: 1.012e1

DP
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SIO_000300: 5.3782e5

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
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allele count: 42
allele frequency: 1.530612244897959e-2
allele num: 2744
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
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SIO_000300: 2.82e0

InbreedingCoeff
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SIO_000300: -5.87e-2

BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.204e0

DP
type: SiteQuality
SIO_000300: 5.29201e5

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

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

African
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allele count: 19
allele frequency: 6.969919295671314e-3
allele num: 2726
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.95e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
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MQ
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DP
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ClippingRankSum
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SIO_000300: 2.39e-1

ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: 8.67e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.117568171658471e-4
allele num: 8948
num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
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QD
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 9.56e-1

MQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 416
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

South Asian
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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East Asian
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allele frequency: 1.792114695340502e-3
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European (Non-Finnish)
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Other
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African
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Latino
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InbreedingCoeff
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SIO_000300: -8.05e-2

BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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Latino
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European (Finnish)
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South Asian
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allele num: 7876
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African
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DP
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SIO_000300: 3.67548e5

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20
num of homozygotes: 0

African
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allele frequency: 6.587615283267457e-4
allele num: 1518
num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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allele frequency: 6.317119393556538e-4
allele num: 6332
num of homozygotes: 0

South Asian
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East Asian
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FS
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ReadPosRankSum
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DP
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SIO_000300: 3.49813e5

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

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

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

Other
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Latino
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African
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South Asian
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 8.021390374331552e-3
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.282051282051282e-4
allele num: 7800
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.491e0

FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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SIO_000300: -5.46e-2

ReadPosRankSum
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SIO_000300: 2.14e0

QD
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GenotypeDepth
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variant carriers: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.299376299376299e-4
allele num: 7696
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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BaseQRankSum
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SIO_000300: -4.208e0

MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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DP
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VQSLOD
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SIO_000300: -1.702e0

InbreedingCoeff
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SIO_000300: -4.54e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 15
allele frequency: 1.961810096782631e-3
allele num: 7646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 8.328855454056958e-3
allele num: 3722
num of homozygotes: 0

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

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

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

MQRankSum
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SIO_000300: 2.69e-1

InbreedingCoeff
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SIO_000300: -4.44e-2

MQ
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SIO_000300: 5.968e1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.31e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.54512e5

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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allele num: 7622
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.094690749863164e-3
allele num: 3654
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Other
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: 9.29e-1

MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 1.180792442928365e-3
allele num: 7622
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -4.788e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
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SIO_000300: 1.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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DP
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SIO_000300: 2.42075e5

QD
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ClippingRankSum
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SIO_000300: -2.42e-1

InbreedingCoeff
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SIO_000300: 4.0e-2

VQSLOD
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SIO_000300: 4.69e0

BaseQRankSum
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SIO_000300: 1.53e-1

GenotypeDepth
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variant carriers: 4

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

South Asian
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allele frequency: 2.623983206507478e-4
allele num: 7622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

African
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allele count: 17
allele frequency: 3.01418439716312e-2
allele num: 564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 2.42075e5

InbreedingCoeff
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SIO_000300: 4.0e-2

ClippingRankSum
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SIO_000300: -2.42e-1

BaseQRankSum
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SIO_000300: 1.53e-1

VQSLOD
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SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 11480
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.947040498442368e-4
allele num: 10272
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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 6.035913686434284e-5
allele num: 66270
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

East Asian
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African
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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
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allele num: 66290
num of homozygotes: 0

Other
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allele num: 904
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European (Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
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: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.797773654916512e-4
allele num: 8624
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 2.404814e6

BaseQRankSum
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SIO_000300: -4.565e0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 1.0287e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeDepth
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bin: 6.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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: 66624
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.407283e6

BaseQRankSum
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SIO_000300: 5.93e0

VQSLOD
type: SiteQuality
SIO_000300: -3.386e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
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SIO_000300: -1.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.485e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 5.1e0

DP
type: SiteQuality
SIO_000300: 2.409687e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

FS
type: SiteQuality
SIO_000300: 2.017e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.831e0

GenotypeDepth
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bin: 9.25e1
variant carriers: 9

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 14

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 13

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 148

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.189413596263622e-4
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 90
allele frequency: 1.361161524500907e-2
allele num: 6612
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.7989081528586e-4
allele num: 66676
num of homozygotes: 1

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

DP
type: SiteQuality
SIO_000300: 2.416424e6

VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
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SIO_000300: 5.570000000000001e-1

BaseQRankSum
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SIO_000300: -2.408e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
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SIO_000300: 5.963e1

ClippingRankSum
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SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 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: 1.499700059988002e-5
allele num: 66680
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
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 7.93e-1

VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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num of homozygotes: 0

East Asian
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 5.973e1

DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

South Asian
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allele num: 16510
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East Asian
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African
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European (Finnish)
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Other
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.498965237995261e-5
allele num: 66682
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
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allele num: 66684
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

FS
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SIO_000300: 9.69e-1

InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -8.26e-1

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

Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10240
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
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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SIO_000300: 2.415721e6

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 5.868e1

ClippingRankSum
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SIO_000300: 7.18e-1

VQSLOD
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SIO_000300: -2.668e0

InbreedingCoeff
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SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 6.992e0

ReadPosRankSum
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SIO_000300: -8.03e-1

DP
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SIO_000300: 2.415268e6

QD
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SIO_000300: 2.717e1

MQRankSum
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SIO_000300: 5.85e-1

BaseQRankSum
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SIO_000300: -2.137e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.04972707096155e-4
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
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

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

DP
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SIO_000300: 2.415576e6

FS
type: SiteQuality
SIO_000300: 1.487e0

MQRankSum
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SIO_000300: 5.53e-1

QD
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SIO_000300: 1.326e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

GenotypeDepth
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variant carriers: 2290

GenotypeDepth
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variant carriers: 407

GenotypeDepth
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variant carriers: 3871

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3332

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 59328

Other
type: Population
allele count: 905
allele frequency: 9.966960352422908e-1
allele num: 908
num of homozygotes: 451

African
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allele count: 8312
allele frequency: 8.13307240704501e-1
allele num: 10220
num of homozygotes: 3388

South Asian
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allele count: 16507
allele frequency: 9.998182919442762e-1
allele num: 16510
num of homozygotes: 8253

East Asian
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allele count: 8654
allele frequency: 1.0e0
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num of homozygotes: 4327

European (Finnish)
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allele count: 6614
allele frequency: 1.0e0
allele num: 6614
num of homozygotes: 3307

European (Non-Finnish)
type: Population
allele count: 66679
allele frequency: 9.995952388091026e-1
allele num: 66706
num of homozygotes: 33326

Latino
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allele count: 11491
allele frequency: 9.926572218382861e-1
allele num: 11576
num of homozygotes: 5704

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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SIO_000300: 1.65e-1

ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

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

Latino
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allele count: 0
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South Asian
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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: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

Other
type: Population
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DP
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QD
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8642
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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BaseQRankSum
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

South Asian
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allele num: 16506
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Other
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele num: 66614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 0
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.643e0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16506
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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ClippingRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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African
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East Asian
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Other
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Latino
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European (Non-Finnish)
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allele num: 65388
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FS
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MQRankSum
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VQSLOD
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MQ
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele num: 9082
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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FS
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VQSLOD
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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African
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East Asian
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FS
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele count: 0
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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Latino
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East Asian
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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VQSLOD
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QD
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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