2-170343577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343577
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-920A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.143-2A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.143-2A>G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.143-2A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.143-2A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: c.143-2A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

2-170343579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343579
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-918G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.143G>A
  hgvsp: ENSP00000424363.1:p.Gly48Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.143G>A
  hgvsp: ENSP00000452313.1:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.143G>A
  hgvsp: ENSP00000295240.3:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.143G>A
  hgvsp: ENSP00000376431.2:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49615
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly48Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-170343589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343589
    reference: chr 2
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.153G>A
  hgvsp: ENST00000295240.3:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-908G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.153G>A
  hgvsp: ENST00000554017.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.153G>A
  hgvsp: ENST00000513963.1:c.153G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.153G>A
  hgvsp: ENST00000392663.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu51Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-170343597-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343597
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343597
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.161A>C
  hgvsp: ENSP00000452313.1:p.Asn54Thr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-900A>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.161A>C
  hgvsp: ENSP00000376431.2:p.Asn54Thr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.161A>C
  hgvsp: ENSP00000295240.3:p.Asn54Thr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.161A>C
  hgvsp: ENSP00000424363.1:p.Asn54Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn54Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-170343613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343613
    reference: chr 2
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.177G>T
  hgvsp: ENSP00000295240.3:p.Trp59Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.177G>T
  hgvsp: ENSP00000452313.1:p.Trp59Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.177G>T
  hgvsp: ENSP00000424363.1:p.Trp59Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.177G>T
  hgvsp: ENSP00000376431.2:p.Trp59Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-884G>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp59Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-170343616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343616
    reference: chr 2
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-881C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.180C>T
  hgvsp: ENST00000513963.1:c.180C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.180C>T
  hgvsp: ENST00000554017.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.180C>T
  hgvsp: ENST00000392663.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.180C>T
  hgvsp: ENST00000295240.3:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49614
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His60His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-170343618-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343617
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.185delT
  hgvsp: ENSP00000376431.2:p.Leu62TrpfsTer16
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.185delT
  hgvsp: ENSP00000295240.3:p.Leu62TrpfsTer16
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-876delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.185delT
  hgvsp: ENSP00000452313.1:p.Leu62TrpfsTer16
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.185delT
  hgvsp: ENSP00000424363.1:p.Leu62TrpfsTer16
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49613
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu62TrpfsTer16
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: CT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-170343621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343621
    reference: chr 2
allele count: 5
allele frequency: 4.123371268349002e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.185T>C
  hgvsp: ENSP00000424363.1:p.Leu62Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.185T>C
  hgvsp: ENSP00000295240.3:p.Leu62Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.185T>C
  hgvsp: ENSP00000376431.2:p.Leu62Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-876T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.185T>C
  hgvsp: ENSP00000452313.1:p.Leu62Ser
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49613
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu62Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-170343626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343626
    reference: chr 2
allele count: 37
allele frequency: 3.051596727368699e-4
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.190T>C
  hgvsp: ENST00000392663.2:c.190T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-871T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.190T>C
  hgvsp: ENST00000554017.1:c.190T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.190T>C
  hgvsp: ENST00000513963.1:c.190T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.190T>C
  hgvsp: ENST00000295240.3:c.190T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49612
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu64Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-170343633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343633
    reference: chr 2
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.197G>A
  hgvsp: ENSP00000424363.1:p.Arg66Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.197G>A
  hgvsp: ENSP00000376431.2:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-864G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.197G>A
  hgvsp: ENSP00000452313.1:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.197G>A
  hgvsp: ENSP00000295240.3:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49609
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg66Lys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-170343635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343635
    reference: chr 2
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.199G>A
  hgvsp: ENSP00000452313.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.199G>A
  hgvsp: ENSP00000295240.3:p.Val67Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-862G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.199G>A
  hgvsp: ENSP00000424363.1:p.Val67Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.199G>A
  hgvsp: ENSP00000376431.2:p.Val67Ile
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val67Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

2-170343639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343639
    reference: chr 2
allele count: 6
allele frequency: 4.950658437572197e-5
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.203A>G
  hgvsp: ENSP00000452313.1:p.Asn68Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.203A>G
  hgvsp: ENSP00000376431.2:p.Asn68Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-858A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.203A>G
  hgvsp: ENSP00000424363.1:p.Asn68Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.203A>G
  hgvsp: ENSP00000295240.3:p.Asn68Ser
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn68Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-170343649-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343649
    reference: chr 2
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+5G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+5G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-848G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+5G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+5G>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: c.208+5G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-170343652-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343652
    reference: chr 2
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+8T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-845T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+8T>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+8T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+8T>A
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: c.208+8T>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-170343660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343660
    reference: chr 2
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-837A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+16A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+16A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+16A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+16A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49607
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-170343669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343669
    reference: chr 2
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+25T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+25T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+25T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+25T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-828T>C
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-170343673-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343674
    reference: chr 2
allele count: 109
allele frequency: 9.021237150944333e-4
allele num: 120826
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+37dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+37dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+37dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-816dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+37dupA
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-170343683-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343683
    reference: chr 2
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-814C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+39C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+39C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+39C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+39C>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-170343690-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343690
    reference: chr 2
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+46C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+46C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-807C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+46C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+46C>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-170343692-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170343692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170343692
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.208+48G>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-805G>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.208+48G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.208+48G>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.208+48G>C
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-170344277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344277
    reference: chr 2
allele count: 1
allele frequency: 8.500076500688507e-6
allele num: 117646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.209-39C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.209-39C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.209-39C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-220C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.209-39C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.6C>T
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-170344279-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344280
    reference: chr 2
allele count: 1
allele frequency: 8.477018802027703e-6
allele num: 117966
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-217dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.209-36dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.209-36dupA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.209-36dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.9dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.209-36dupA
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

2-170344281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344281
    reference: chr 2
allele count: 10
allele frequency: 8.467400508044031e-5
allele num: 118100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-216T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.209-35T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.10T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.209-35T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.209-35T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.209-35T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22441
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10183
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

2-170344295-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344295
    reference: chr 2
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.209-21T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.209-21T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-202T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.209-21T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.209-21T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.24T>G
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-170344297-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344297
    reference: chr 2
allele count: 13
allele frequency: 1.088631339184029e-4
allele num: 119416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.209-19C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.209-19C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.26C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.209-19C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-200C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.209-19C>A
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21334
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

2-170344320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344320
    reference: chr 2
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.213C>T
  hgvsp: ENST00000392663.2:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.213C>T
  hgvsp: ENST00000513963.1:c.213C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.213C>T
  hgvsp: ENST00000295240.3:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.49C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.213C>T
  hgvsp: ENST00000554017.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-177C>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val71Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

2-170344320-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344320
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344319
    reference: chr 2
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.215delG
  hgvsp: ENSP00000295240.3:p.Gly72ValfsTer6
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-175delG
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.215delG
  hgvsp: ENSP00000376431.2:p.Gly72ValfsTer6
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.215delG
  hgvsp: ENSP00000452313.1:p.Gly72ValfsTer6
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.215delG
  hgvsp: ENSP00000424363.1:p.Gly72ValfsTer6
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.51delG
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly72ValfsTer6
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: CG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-170344328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344328
    reference: chr 2
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.221A>G
  hgvsp: ENSP00000424363.1:p.Asn74Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.221A>G
  hgvsp: ENSP00000452313.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.221A>G
  hgvsp: ENSP00000295240.3:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.57A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.221A>G
  hgvsp: ENSP00000376431.2:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-169A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn74Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-170344333-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344333
    reference: chr 2
allele count: 2
allele frequency: 1.659833684664797e-5
allele num: 120494
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.226A>G
  hgvsp: ENSP00000295240.3:p.Ile76Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.226A>G
  hgvsp: ENSP00000452313.1:p.Ile76Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-164A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.226A>G
  hgvsp: ENSP00000376431.2:p.Ile76Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.226A>G
  hgvsp: ENSP00000424363.1:p.Ile76Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.62A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15162
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile76Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-170344336-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344336
    reference: chr 2
allele count: 6
allele frequency: 4.979335756610068e-5
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.65T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.229T>A
  hgvsp: ENSP00000376431.2:p.Leu77Met
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.229T>A
  hgvsp: ENSP00000452313.1:p.Leu77Met
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.229T>A
  hgvsp: ENSP00000295240.3:p.Leu77Met
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-161T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.229T>A
  hgvsp: ENSP00000424363.1:p.Leu77Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21770
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu77Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-170344359-TAACTCTGTAAGTCTAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344340
    reference: chr 2
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
hgvs: c.254_258+14delACTCTGTAAGTCTAAAAAA
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: TAACTCTGTAAGTCTAAAAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-170344366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344366
    reference: chr 2
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+1G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-131G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.95G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+1G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+1G>A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+1G>A
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
hgvs: c.258+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-170344373-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344374
    reference: chr 2
allele count: 2
allele frequency: 1.661792076575379e-5
allele num: 120352
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+14dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+14dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.108dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+14dupA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+14dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-118dupA
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-170344388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344388
    reference: chr 2
allele count: 2
allele frequency: 1.666805567130594e-5
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+23C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-109C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+23C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+23C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.117C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+23C>T
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-170344389-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344391
    reference: chr 2
allele count: 23
allele frequency: 1.918809337093087e-4
allele num: 119866
alternate allele: AAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+34_258+35dupTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.128_129dupTA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-98_143-97dupTA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+34_258+35dupTA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+34_258+35dupTA
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+34_258+35dupTA
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11987
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

2-170344390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344390
    reference: chr 2
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+25A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.119A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+25A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-107A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+25A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+25A>G
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-170344394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344394
    reference: chr 2
allele count: 1
allele frequency: 8.337085021593051e-6
allele num: 119946
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+29A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+29A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+29A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.123A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+29A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-103A>G
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-170344396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344396
    reference: chr 2
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+31A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-101A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+31A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+31A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+31A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.125A>G
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15341
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

2-170344398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344398
    reference: chr 2
allele count: 24
allele frequency: 2.000433427242569e-4
allele num: 119974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+33A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.127A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-99A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+33A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+33A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+33A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22060
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

2-170344406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344406
    reference: chr 2
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-91G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+41G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.135G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+41G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+41G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+41G>A
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15363
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

2-170344407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344407
    reference: chr 2
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.258+42A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.258+42A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.258+42A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.136A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-90A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.258+42A>G
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-170344467-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344467
    reference: chr 2
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.259-30C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.196C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.259-30C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.259-30C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-30C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.259-30C>A
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-170344472-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344471
    reference: chr 2
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.205delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-21delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.259-21delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.259-21delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.259-21delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.259-21delT
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: CT
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-170344480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344480
    reference: chr 2
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.259-17T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.209T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-17T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.259-17T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.259-17T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.259-17T>C
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

2-170344484-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344484
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.259-13T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.259-13T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.213T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-13T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.259-13T>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.259-13T>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-170344494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344494
    reference: chr 2
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.143-3C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.259-3C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.259-3C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.259-3C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.223C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.259-3C>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: c.259-3C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-170344503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344503
    reference: chr 2
allele count: 2
allele frequency: 1.654725067430047e-5
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.149C>T
  hgvsp: ENSP00000406182.1:p.Thr50Met
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.265C>T
  hgvsp: ENSP00000295240.3:p.Arg89Ter
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.265C>T
  hgvsp: ENSP00000376431.2:p.Arg89Ter
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.265C>T
  hgvsp: ENSP00000452313.1:p.Arg89Ter
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.232C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.265C>T
  hgvsp: ENSP00000424363.1:p.Arg89Ter
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20365
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg89Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-170344514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344514
    reference: chr 2
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.160T>C
  hgvsp: ENSP00000406182.1:p.Ter54ArgextTer9
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.276T>C
  hgvsp: ENST00000513963.1:c.276T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.276T>C
  hgvsp: ENST00000554017.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.243T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.276T>C
  hgvsp: ENST00000392663.2:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.276T>C
  hgvsp: ENST00000295240.3:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ter54ArgextTer9
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-170344523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344523
    reference: chr 2
allele count: 341
allele frequency: 2.818042080557989e-3
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.285C>T
  hgvsp: ENST00000295240.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.252C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.285C>T
  hgvsp: ENST00000392663.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.285C>T
  hgvsp: ENST00000513963.1:c.285C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.285C>T
  hgvsp: ENST00000554017.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu95Leu
num of homozygotes: 4
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-170344525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344525
    reference: chr 2
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.254A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.287A>G
  hgvsp: ENSP00000295240.3:p.Tyr96Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.287A>G
  hgvsp: ENSP00000424363.1:p.Tyr96Cys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.287A>G
  hgvsp: ENSP00000452313.1:p.Tyr96Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.287A>G
  hgvsp: ENSP00000376431.2:p.Tyr96Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr96Cys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-170344540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344540
    reference: chr 2
allele count: 3
allele frequency: 2.480240748702007e-5
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.302G>A
  hgvsp: ENSP00000295240.3:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.302G>A
  hgvsp: ENSP00000424363.1:p.Cys101Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.302G>A
  hgvsp: ENSP00000376431.2:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.269G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.302G>A
  hgvsp: ENSP00000452313.1:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys101Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-170344546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344546
    reference: chr 2
allele count: 4
allele frequency: 3.308519437551696e-5
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.308G>A
  hgvsp: ENSP00000452313.1:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.308G>A
  hgvsp: ENSP00000295240.3:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.308G>A
  hgvsp: ENSP00000424363.1:p.Ser103Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.308G>A
  hgvsp: ENSP00000376431.2:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.275G>A
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser103Asn
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-170344551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344551
    reference: chr 2
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.313C>T
  hgvsp: ENSP00000452313.1:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.280C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.313C>T
  hgvsp: ENSP00000376431.2:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.313C>T
  hgvsp: ENSP00000295240.3:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.313C>T
  hgvsp: ENSP00000424363.1:p.Arg105Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg105Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-170344552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344552
    reference: chr 2
allele count: 2
allele frequency: 1.655245472903632e-5
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.314G>A
  hgvsp: ENSP00000295240.3:p.Arg105His
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.314G>A
  hgvsp: ENSP00000376431.2:p.Arg105His
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.314G>A
  hgvsp: ENSP00000424363.1:p.Arg105His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.314G>A
  hgvsp: ENSP00000452313.1:p.Arg105His
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.281G>A
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg105His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-170344563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344563
    reference: chr 2
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.325A>G
  hgvsp: ENSP00000452313.1:p.Ile109Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.325A>G
  hgvsp: ENSP00000376431.2:p.Ile109Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.325A>G
  hgvsp: ENSP00000424363.1:p.Ile109Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.292A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.325A>G
  hgvsp: ENSP00000295240.3:p.Ile109Val
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*47A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile109Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-170344570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344570
    reference: chr 2
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.332C>T
  hgvsp: ENSP00000376431.2:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.332C>T
  hgvsp: ENSP00000424363.1:p.Thr111Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.332C>T
  hgvsp: ENSP00000295240.3:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.299C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.332C>T
  hgvsp: ENSP00000452313.1:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr111Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-170344578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344578
    reference: chr 2
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.340G>A
  hgvsp: ENSP00000376431.2:p.Val114Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.340G>A
  hgvsp: ENSP00000295240.3:p.Val114Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.307G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.340G>A
  hgvsp: ENSP00000452313.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.340G>A
  hgvsp: ENSP00000424363.1:p.Val114Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val114Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-170344583-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344583
    reference: chr 2
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.345T>G
  hgvsp: ENST00000295240.3:c.345T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.312T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*67T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.345T>G
  hgvsp: ENST00000554017.1:c.345T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.345T>G
  hgvsp: ENST00000513963.1:c.345T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.345T>G
  hgvsp: ENST00000392663.2:c.345T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro115Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-170344591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344591
    reference: chr 2
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.353C>G
  hgvsp: ENSP00000452313.1:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.353C>G
  hgvsp: ENSP00000376431.2:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.320C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.353C>G
  hgvsp: ENSP00000295240.3:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.353C>G
  hgvsp: ENSP00000424363.1:p.Pro118Arg
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro118Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-170344603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344603
    reference: chr 2
allele count: 9
allele frequency: 7.490137984986435e-5
allele num: 120158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.332C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.365C>A
  hgvsp: ENSP00000452313.1:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*87C>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.365C>A
  hgvsp: ENSP00000295240.3:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.365C>A
  hgvsp: ENSP00000376431.2:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.365C>A
  hgvsp: ENSP00000424363.1:p.Thr122Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr122Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-170344603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344603
    reference: chr 2
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.365C>T
  hgvsp: ENSP00000295240.3:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.365C>T
  hgvsp: ENSP00000376431.2:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.365C>T
  hgvsp: ENSP00000452313.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.365C>T
  hgvsp: ENSP00000424363.1:p.Thr122Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.332C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*87C>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr122Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-170344618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344618
    reference: chr 2
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*102T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.380T>C
  hgvsp: ENSP00000376431.2:p.Val127Ala
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.380T>C
  hgvsp: ENSP00000295240.3:p.Val127Ala
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.380T>C
  hgvsp: ENSP00000452313.1:p.Val127Ala
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.380T>C
  hgvsp: ENSP00000424363.1:p.Val127Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.347T>C
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val127Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-170344620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344620
    reference: chr 2
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.382C>T
  hgvsp: ENSP00000424363.1:p.His128Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.382C>T
  hgvsp: ENSP00000452313.1:p.His128Tyr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.382C>T
  hgvsp: ENSP00000376431.2:p.His128Tyr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.382C>T
  hgvsp: ENSP00000295240.3:p.His128Tyr
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.349C>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His128Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-170344629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344629
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344629
    reference: chr 2
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.386+5A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*108+5A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.386+5A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.386+5A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.386+5A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.353+5A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: c.386+5A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-170344650-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344650
    reference: chr 2
allele count: 2
allele frequency: 1.681718043152885e-5
allele num: 118926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.386+26G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.386+26G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.386+26G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*108+26G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.386+26G>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.353+26G>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20157
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-170344668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344668
    reference: chr 2
allele count: 3
allele frequency: 2.535711267010396e-5
allele num: 118310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.353+44C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.386+44C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.386+44C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*108+44C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.386+44C>T
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.386+44C>T
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20151
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-170344668-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344666
    reference: chr 2
allele count: 2
allele frequency: 1.690474178006931e-5
allele num: 118310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.386+46_386+47delAT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.353+46_353+47delAT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.386+46_386+47delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.386+46_386+47delAT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.386+46_386+47delAT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*108+46_*108+47delAT
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: CTA
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-170344671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170344671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170344671
    reference: chr 2
allele count: 1
allele frequency: 8.454514710855598e-6
allele num: 118280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*108+47T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.386+47T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.353+47T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.386+47T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.386+47T>C
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.386+47T>C
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-170349335-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170349335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170349335
    reference: chr 2
allele count: 2
allele frequency: 2.768242719521648e-5
allele num: 72248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*109-49A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.354-49A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.387-49A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.387-49A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.387-49A>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.387-49A>G
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-170349350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170349350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170349350
    reference: chr 2
allele count: 34
allele frequency: 4.608170014366648e-4
allele num: 73782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.387-34G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.354-34G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.387-34G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*109-34G>A
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.387-34G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.387-34G>A
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-170349350-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170349350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170349349
    reference: chr 2
allele count: 1
allele frequency: 1.355344121872543e-5
allele num: 73782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.354-31delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.387-31delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.387-31delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*109-31delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.387-31delT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.387-31delT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-170349352-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170349352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170349352
    reference: chr 2
allele count: 12
allele frequency: 1.61390106786454e-4
allele num: 74354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.387-32T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.387-32T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.354-32T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*109-32T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.387-32T>G
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.387-32T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18844
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-170349362-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170349362
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 170349358
    reference: chr 2
allele count: 33
allele frequency: 4.231528735926961e-4
allele num: 77986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000406182
  ensembl transcript: ENST00000443151
  gene symbol: BBS5
  hgvsc: ENST00000443151.1:c.*109-15_*109-12delTGTT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251569
  ensembl protein: ENSP00000424363
  ensembl transcript: ENST00000513963
  gene symbol: RP11-724O16.1
  hgvsc: ENST00000513963.1:c.387-15_387-12delTGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000376431
  ensembl transcript: ENST00000392663
  gene symbol: BBS5
  hgvsc: ENST00000392663.2:c.387-15_387-12delTGTT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000295240
  ensembl transcript: ENST00000295240
  gene symbol: BBS5
  hgvsc: ENST00000295240.3:c.387-15_387-12delTGTT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl protein: ENSP00000452313
  ensembl transcript: ENST00000554017
  gene symbol: BBS5
  hgvsc: ENST00000554017.1:c.387-15_387-12delTGTT
  variant of: http://identifiers.org/hgnc/970
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163093
  ensembl transcript: ENST00000475571
  gene symbol: BBS5
  hgvsc: ENST00000475571.1:n.354-15_354-12delTGTT
  variant of: http://identifiers.org/hgnc/970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TTTTG

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

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

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

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.27e1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.9e0

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.948e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 3.765739e6

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 11570
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.765601e6

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.935e0

FS
type: SiteQuality
SIO_000300: 3.176e0

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
all individuals: 49615
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.566e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.092e1

DP
type: SiteQuality
SIO_000300: 3.765276e6

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

GenotypeQuality
all individuals: 49615
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.512e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 3.764715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 1.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 3.763119e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.552e0

VQSLOD
type: SiteQuality
SIO_000300: -8.609e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3071
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 3.763143e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 3.638e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 3.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.218e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.762873e6

MQ
type: SiteQuality
SIO_000300: 6.069e1

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 2.594e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.762879e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.200692041522491e-3
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 3.764873e6

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

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

GenotypeQuality
all individuals: 991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 4.697e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.607e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.760493e6

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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: 6610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -1.451e0

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.760001e6

FS
type: SiteQuality
SIO_000300: 3.271e0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49608
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.192107995846313e-4
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.760012e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

FS
type: SiteQuality
SIO_000300: 2.262e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

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

GenotypeQuality
all individuals: 1527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49608
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 5.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.796e0

DP
type: SiteQuality
SIO_000300: 3.757696e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.404e0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.756898e6

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.613e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.958e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 4.862e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 1521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.956947162426615e-4
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 4.198e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 3.753343e6

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49606
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 2.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 3.750018e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.309e0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

GenotypeQuality
all individuals: 1508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49623
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 983
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

African
type: Population
allele count: 101
allele frequency: 9.94486018117369e-3
allele num: 10156
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.201109570041609e-4
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.011e1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 3.747992e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 3.738601e6

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 982
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.581e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.733432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.224e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.222e-1

GenotypeQuality
all individuals: 1226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 3.732228e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.188e0

QD
type: SiteQuality
SIO_000300: 1.568e1

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14976
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

DP
type: SiteQuality
SIO_000300: 1.920473e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 2.032e1

GenotypeQuality
all individuals: 443
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551782998665467e-5
allele num: 64442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.929817e6

MQ
type: SiteQuality
SIO_000300: 6.033e1

QD
type: SiteQuality
SIO_000300: 1.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 6436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15032
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.23981030902272e-4
allele num: 64526
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224589762429586e-4
allele num: 16332
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.936896e6

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.975158e6

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.513e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15109
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2953
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.693440428380187e-4
allele num: 16434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055300947143294e-5
allele num: 65460
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 1.97892e6

FS
type: SiteQuality
SIO_000300: 5.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.682e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

GenotypeQuality
all individuals: 6949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21882
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511624391571182e-5
allele num: 66154
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 4.956e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.998396e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.998396e6

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 4.956e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.423e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 2.00047e6

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
all individuals: 2643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6989
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.429e0

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

DP
type: SiteQuality
SIO_000300: 2.001231e6

QD
type: SiteQuality
SIO_000300: 1.106e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 3852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15167
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1753
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.205622071837585e-4
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 2.001485e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15176
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
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: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.169e0

MQ
type: SiteQuality
SIO_000300: 5.28e1

FS
type: SiteQuality
SIO_000300: 4.285e0

DP
type: SiteQuality
SIO_000300: 2.001198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 2.04e0

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

GenotypeQuality
all individuals: 3882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7016
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 2.000649e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.087e0

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 2654
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3116
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 9.210000000000001e0

DP
type: SiteQuality
SIO_000300: 2.000173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.038e1

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15187
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.051282051282051e-4
allele num: 9750
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.996593e6

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

QD
type: SiteQuality
SIO_000300: 7.8e0

FS
type: SiteQuality
SIO_000300: 1.3921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
all individuals: 257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15179
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 19527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 20
allele frequency: 2.316423442205235e-3
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 2.003732e6

QD
type: SiteQuality
SIO_000300: 1.134e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031353135313531e-4
allele num: 9696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

DP
type: SiteQuality
SIO_000300: 2.004717e6

FS
type: SiteQuality
SIO_000300: 1.915e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 6966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513821187441339e-5
allele num: 66058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 4.446e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 2.133e1

DP
type: SiteQuality
SIO_000300: 2.005113e6

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.518e0

DP
type: SiteQuality
SIO_000300: 2.005983e6

MQRankSum
type: SiteQuality
SIO_000300: -1.682e0

QD
type: SiteQuality
SIO_000300: 1.609e1

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

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

GenotypeQuality
all individuals: 15355
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7019
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.472187886279357e-3
allele num: 9708
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 2.007566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

FS
type: SiteQuality
SIO_000300: 3.311e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 2.011687e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.742e0

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3987
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512447442451375e-5
allele num: 66118
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.012207e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.133e0

QD
type: SiteQuality
SIO_000300: 1.61e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 3.072e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: -8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 2.454834e6

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.674e0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4933
bin: 7.75e1
variant carriers: 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: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 1.334e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

DP
type: SiteQuality
SIO_000300: 2.455054e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6388
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.817e1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 2.455603e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 4.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.912e-1

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

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3946
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

DP
type: SiteQuality
SIO_000300: 2.456344e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.352e0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20366
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.634e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

DP
type: SiteQuality
SIO_000300: 2.457718e6

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.731e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.458777e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -5.836e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
all individuals: 4660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14830
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.459836e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.024e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.322e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20403
bin: 9.75e1
variant carriers: 336

GenotypeQuality
all individuals: 4923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 12
allele frequency: 1.036806635562468e-3
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

African
type: Population
allele count: 323
allele frequency: 3.176007866273353e-2
allele num: 10170
num of homozygotes: 4

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.92e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

DP
type: SiteQuality
SIO_000300: 2.463862e6

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.440102e6

FS
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.085e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.187e0

QD
type: SiteQuality
SIO_000300: 1.575e1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 3960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20192
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
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: 3
allele frequency: 4.507888805409467e-5
allele num: 66550
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 8.403e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.018e-1

DP
type: SiteQuality
SIO_000300: 2.439281e6

MQ
type: SiteQuality
SIO_000300: 5.85e1

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20190
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4936
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.852216748768474e-5
allele num: 10150
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509650652396128e-5
allele num: 66524
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.482e0

DP
type: SiteQuality
SIO_000300: 2.438413e6

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20185
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3960
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 2.437461e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 1.752e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 2.437203e6

FS
type: SiteQuality
SIO_000300: 6.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeQuality
all individuals: 3959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20182
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
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: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 2.433999e6

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14583
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4674
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
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: 11548
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: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.993e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

FS
type: SiteQuality
SIO_000300: 5.119e0

DP
type: SiteQuality
SIO_000300: 2.432718e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.48e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.636e0

DP
type: SiteQuality
SIO_000300: 2.430681e6

QD
type: SiteQuality
SIO_000300: 1.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
all individuals: 4911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14496
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 1.487e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

DP
type: SiteQuality
SIO_000300: 2.429996e6

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20180
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006441223832528e-4
allele num: 9936
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.428594e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.096e0

FS
type: SiteQuality
SIO_000300: 2.658e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
all individuals: 14377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20179
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.043599257884972e-3
allele num: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.279e0

QD
type: SiteQuality
SIO_000300: 1.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

DP
type: SiteQuality
SIO_000300: 2.426599e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.279e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.188e0

DP
type: SiteQuality
SIO_000300: 2.426599e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
all individuals: 14033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.411e0

QD
type: SiteQuality
SIO_000300: 1.427e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 2.420463e6

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 2.951e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 3958
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.979e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.420328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.415511e6

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 3.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4853
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.116402116402116e-4
allele num: 9450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.729e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.394038e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.830161054172767e-4
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65130
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

FS
type: SiteQuality
SIO_000300: 6.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 2.340609e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20151
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1235
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65130
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.149613069647464e-4
allele num: 9304
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 6.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

DP
type: SiteQuality
SIO_000300: 2.340609e6

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3933
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20146
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 3.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.171e0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.409e0

VQSLOD
type: SiteQuality
SIO_000300: -3.356e-1

DP
type: SiteQuality
SIO_000300: 2.332577e6

GenotypeQuality
all individuals: 7011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7527
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5450
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.927400468384075e-4
allele num: 6832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12666
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 4.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.062435e6

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 1271
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4029
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7560
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 7.673581710414902e-4
allele num: 37792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12824
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 8.928571428571428e-4
allele num: 5600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.109709e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.646062658763759e-5
allele num: 37792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12824
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.109709e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 2667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12850
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.425313568985177e-3
allele num: 7016
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.522367030644593e-4
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

DP
type: SiteQuality
SIO_000300: 1.119943e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 386
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 0