2-220430057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430057
    reference: chr 2
allele count: 9
allele frequency: 7.45329269908573e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2314C>T
  hgvsp: ENSP00000474519.1:p.Arg772Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2314C>T
  hgvsp: ENSP00000362983.1:p.Arg772Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2314C>T
  hgvsp: ENSP00000385636.1:p.Arg772Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2314C>T
  hgvsp: ENSP00000362980.4:p.Arg772Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.45C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1075C>T
  hgvsp: ENSP00000289656.3:p.Arg359Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2314C>T
  hgvsp: ENSP00000265318.4:p.Arg772Cys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1821C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg772Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-220430060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430060
    reference: chr 2
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2311C>T
  hgvsp: ENSP00000265318.4:p.His771Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1072C>T
  hgvsp: ENSP00000289656.3:p.His358Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2311C>T
  hgvsp: ENSP00000362983.1:p.His771Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2311C>T
  hgvsp: ENSP00000362980.4:p.His771Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2311C>T
  hgvsp: ENSP00000474519.1:p.His771Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.42C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2311C>T
  hgvsp: ENSP00000385636.1:p.His771Tyr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1818C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His771Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-220430064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430064
    reference: chr 2
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1814C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2307C>T
  hgvsp: ENST00000373876.1:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2307C>T
  hgvsp: ENST00000404537.1:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2307C>T
  hgvsp: ENST00000373873.4:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1068C>T
  hgvsp: ENST00000289656.3:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2307C>T
  hgvsp: ENST00000265318.4:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2307C>T
  hgvsp: ENST00000603926.1:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.38C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg769Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-220430065-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430065
    reference: chr 2
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1813G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2306G>T
  hgvsp: ENSP00000362980.4:p.Arg769Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2306G>T
  hgvsp: ENSP00000474519.1:p.Arg769Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2306G>T
  hgvsp: ENSP00000265318.4:p.Arg769Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2306G>T
  hgvsp: ENSP00000385636.1:p.Arg769Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.37G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2306G>T
  hgvsp: ENSP00000362983.1:p.Arg769Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1067G>T
  hgvsp: ENSP00000289656.3:p.Arg356Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg769Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-220430079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430079
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430079
    reference: chr 2
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2292G>A
  hgvsp: ENST00000603926.1:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2292G>A
  hgvsp: ENST00000404537.1:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2292G>A
  hgvsp: ENST00000373876.1:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2292G>A
  hgvsp: ENST00000265318.4:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1053G>A
  hgvsp: ENST00000289656.3:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1799G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2292G>A
  hgvsp: ENST00000373873.4:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.23G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val764Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-220430084-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430084
    reference: chr 2
allele count: 2
allele frequency: 1.65582103886212e-5
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2287G>T
  hgvsp: ENSP00000385636.1:p.Val763Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.18G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2287G>T
  hgvsp: ENSP00000265318.4:p.Val763Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1048G>T
  hgvsp: ENSP00000289656.3:p.Val350Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2287G>T
  hgvsp: ENSP00000362983.1:p.Val763Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2287G>T
  hgvsp: ENSP00000474519.1:p.Val763Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1794G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2287G>T
  hgvsp: ENSP00000362980.4:p.Val763Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val763Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-220430088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430088
    reference: chr 2
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1790G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2283G>A
  hgvsp: ENST00000404537.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1044G>A
  hgvsp: ENST00000289656.3:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2283G>A
  hgvsp: ENST00000373873.4:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.14G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2283G>A
  hgvsp: ENST00000265318.4:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2283G>A
  hgvsp: ENST00000603926.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2283G>A
  hgvsp: ENST00000373876.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu761Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-220430093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430093
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430093
    reference: chr 2
allele count: 9
allele frequency: 7.451688221364818e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2278G>A
  hgvsp: ENSP00000474519.1:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2278G>A
  hgvsp: ENSP00000362980.4:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.9G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1785G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2278G>A
  hgvsp: ENSP00000385636.1:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2278G>A
  hgvsp: ENSP00000362983.1:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2278G>A
  hgvsp: ENSP00000265318.4:p.Glu760Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1039G>A
  hgvsp: ENSP00000289656.3:p.Glu347Lys
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu760Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-220430095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430095
    reference: chr 2
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2276G>A
  hgvsp: ENSP00000362980.4:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2276G>A
  hgvsp: ENSP00000362983.1:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1783G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2276G>A
  hgvsp: ENSP00000474519.1:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2276G>A
  hgvsp: ENSP00000265318.4:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000462385
  gene symbol: OBSL1
  hgvsc: ENST00000462385.1:n.7G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2276G>A
  hgvsp: ENSP00000385636.1:p.Ser759Asn
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1037G>A
  hgvsp: ENSP00000289656.3:p.Ser346Asn
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser759Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-220430103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430103
    reference: chr 2
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2268G>A
  hgvsp: ENST00000265318.4:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2268G>A
  hgvsp: ENST00000373876.1:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1029G>A
  hgvsp: ENST00000289656.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2268G>A
  hgvsp: ENST00000603926.1:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2268G>A
  hgvsp: ENST00000373873.4:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1775G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2268G>A
  hgvsp: ENST00000404537.1:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val756Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

2-220430115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430115
    reference: chr 2
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1763T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2256T>C
  hgvsp: ENST00000373873.4:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2256T>C
  hgvsp: ENST00000404537.1:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2256T>C
  hgvsp: ENST00000265318.4:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1017T>C
  hgvsp: ENST00000289656.3:c.1017T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2256T>C
  hgvsp: ENST00000373876.1:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2256T>C
  hgvsp: ENST00000603926.1:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp752Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220430120-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430120
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1758A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1012A>C
  hgvsp: ENSP00000289656.3:p.Lys338Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2251A>C
  hgvsp: ENSP00000474519.1:p.Lys751Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2251A>C
  hgvsp: ENSP00000362983.1:p.Lys751Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2251A>C
  hgvsp: ENSP00000385636.1:p.Lys751Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2251A>C
  hgvsp: ENSP00000265318.4:p.Lys751Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2251A>C
  hgvsp: ENSP00000362980.4:p.Lys751Gln
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys751Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

2-220430125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430125
    reference: chr 2
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2246G>A
  hgvsp: ENSP00000474519.1:p.Trp749Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1753G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2246G>A
  hgvsp: ENSP00000362980.4:p.Trp749Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2246G>A
  hgvsp: ENSP00000265318.4:p.Trp749Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1007G>A
  hgvsp: ENSP00000289656.3:p.Trp336Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2246G>A
  hgvsp: ENSP00000385636.1:p.Trp749Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2246G>A
  hgvsp: ENSP00000362983.1:p.Trp749Ter
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp749Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-220430130-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430130
    reference: chr 2
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2241A>C
  hgvsp: ENST00000373873.4:c.2241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2241A>C
  hgvsp: ENST00000603926.1:c.2241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1748A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.1002A>C
  hgvsp: ENST00000289656.3:c.1002A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2241A>C
  hgvsp: ENST00000373876.1:c.2241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2241A>C
  hgvsp: ENST00000265318.4:c.2241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2241A>C
  hgvsp: ENST00000404537.1:c.2241A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala747Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

2-220430133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430133
    reference: chr 2
allele count: 385
allele frequency: 3.188352987942229e-3
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2238G>A
  hgvsp: ENST00000603926.1:c.2238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2238G>A
  hgvsp: ENST00000265318.4:c.2238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2238G>A
  hgvsp: ENST00000373873.4:c.2238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1745G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2238G>A
  hgvsp: ENST00000404537.1:c.2238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2238G>A
  hgvsp: ENST00000373876.1:c.2238G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.999G>A
  hgvsp: ENST00000289656.3:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 39776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro746Pro
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-220430143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430143
    reference: chr 2
allele count: 2
allele frequency: 1.656589083077942e-5
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1735T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2228T>C
  hgvsp: ENSP00000385636.1:p.Val743Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2228T>C
  hgvsp: ENSP00000362983.1:p.Val743Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2228T>C
  hgvsp: ENSP00000474519.1:p.Val743Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.989T>C
  hgvsp: ENSP00000289656.3:p.Val330Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2228T>C
  hgvsp: ENSP00000265318.4:p.Val743Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2228T>C
  hgvsp: ENSP00000362980.4:p.Val743Ala
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val743Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-220430146-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430146
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2225G>C
  hgvsp: ENSP00000474519.1:p.Arg742Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2225G>C
  hgvsp: ENSP00000362983.1:p.Arg742Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.986G>C
  hgvsp: ENSP00000289656.3:p.Arg329Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2225G>C
  hgvsp: ENSP00000265318.4:p.Arg742Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2225G>C
  hgvsp: ENSP00000385636.1:p.Arg742Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2225G>C
  hgvsp: ENSP00000362980.4:p.Arg742Thr
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1732G>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg742Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-220430149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430149
    reference: chr 2
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2222C>T
  hgvsp: ENSP00000362983.1:p.Ser741Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.983C>T
  hgvsp: ENSP00000289656.3:p.Ser328Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2222C>T
  hgvsp: ENSP00000474519.1:p.Ser741Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2222C>T
  hgvsp: ENSP00000362980.4:p.Ser741Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2222C>T
  hgvsp: ENSP00000265318.4:p.Ser741Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2222C>T
  hgvsp: ENSP00000385636.1:p.Ser741Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1729C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser741Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-220430153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430153
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1725C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2218C>T
  hgvsp: ENSP00000385636.1:p.Leu740Phe
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2218C>T
  hgvsp: ENSP00000474519.1:p.Leu740Phe
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2218C>T
  hgvsp: ENSP00000362980.4:p.Leu740Phe
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.979C>T
  hgvsp: ENSP00000289656.3:p.Leu327Phe
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2218C>T
  hgvsp: ENSP00000265318.4:p.Leu740Phe
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2218C>T
  hgvsp: ENSP00000362983.1:p.Leu740Phe
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu740Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-220430160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430160
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430160
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2211T>C
  hgvsp: ENST00000373873.4:c.2211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1718T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2211T>C
  hgvsp: ENST00000265318.4:c.2211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2211T>C
  hgvsp: ENST00000404537.1:c.2211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2211T>C
  hgvsp: ENST00000603926.1:c.2211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2211T>C
  hgvsp: ENST00000373876.1:c.2211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.972T>C
  hgvsp: ENST00000289656.3:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr737Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-220430169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430169
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430169
    reference: chr 2
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1709G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2202G>C
  hgvsp: ENST00000373876.1:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2202G>C
  hgvsp: ENST00000404537.1:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.963G>C
  hgvsp: ENST00000289656.3:c.963G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2202G>C
  hgvsp: ENST00000373873.4:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2202G>C
  hgvsp: ENST00000603926.1:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2202G>C
  hgvsp: ENST00000265318.4:c.2202G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40479
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val734Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-220430173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430173
    reference: chr 2
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2198G>T
  hgvsp: ENSP00000265318.4:p.Arg733Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.959G>T
  hgvsp: ENSP00000289656.3:p.Arg320Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2198G>T
  hgvsp: ENSP00000385636.1:p.Arg733Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2198G>T
  hgvsp: ENSP00000362983.1:p.Arg733Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2198G>T
  hgvsp: ENSP00000474519.1:p.Arg733Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1705G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2198G>T
  hgvsp: ENSP00000362980.4:p.Arg733Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg733Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

2-220430173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430173
    reference: chr 2
allele count: 3
allele frequency: 2.485830764641543e-5
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2198G>A
  hgvsp: ENSP00000362980.4:p.Arg733Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2198G>A
  hgvsp: ENSP00000385636.1:p.Arg733Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2198G>A
  hgvsp: ENSP00000265318.4:p.Arg733Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.959G>A
  hgvsp: ENSP00000289656.3:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2198G>A
  hgvsp: ENSP00000362983.1:p.Arg733Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2198G>A
  hgvsp: ENSP00000474519.1:p.Arg733Gln
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1705G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg733Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-220430174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430174
    reference: chr 2
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2197C>T
  hgvsp: ENSP00000362983.1:p.Arg733Trp
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1704C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.958C>T
  hgvsp: ENSP00000289656.3:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2197C>T
  hgvsp: ENSP00000385636.1:p.Arg733Trp
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2197C>T
  hgvsp: ENSP00000265318.4:p.Arg733Trp
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2197C>T
  hgvsp: ENSP00000362980.4:p.Arg733Trp
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2197C>T
  hgvsp: ENSP00000474519.1:p.Arg733Trp
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg733Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

2-220430179-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430179
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430179
    reference: chr 2
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2192C>G
  hgvsp: ENSP00000362980.4:p.Ser731Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2192C>G
  hgvsp: ENSP00000265318.4:p.Ser731Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1699C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2192C>G
  hgvsp: ENSP00000474519.1:p.Ser731Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2192C>G
  hgvsp: ENSP00000385636.1:p.Ser731Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.953C>G
  hgvsp: ENSP00000289656.3:p.Ser318Ter
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2192C>G
  hgvsp: ENSP00000362983.1:p.Ser731Ter
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser731Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-220430181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430181
    reference: chr 2
allele count: 84
allele frequency: 6.961825987501865e-4
allele num: 120658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2190C>G
  hgvsp: ENST00000265318.4:c.2190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2190C>G
  hgvsp: ENST00000603926.1:c.2190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.951C>G
  hgvsp: ENST00000289656.3:c.951C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2190C>G
  hgvsp: ENST00000373876.1:c.2190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2190C>G
  hgvsp: ENST00000373873.4:c.2190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1697C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2190C>G
  hgvsp: ENST00000404537.1:c.2190C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39472
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr730Thr
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-220430183-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430183
    reference: chr 2
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2188A>G
  hgvsp: ENSP00000362983.1:p.Thr730Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2188A>G
  hgvsp: ENSP00000474519.1:p.Thr730Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2188A>G
  hgvsp: ENSP00000362980.4:p.Thr730Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2188A>G
  hgvsp: ENSP00000385636.1:p.Thr730Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1695A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2188A>G
  hgvsp: ENSP00000265318.4:p.Thr730Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.949A>G
  hgvsp: ENSP00000289656.3:p.Thr317Ala
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr730Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-220430183-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430183
    reference: chr 2
allele count: 26
allele frequency: 2.154886619811696e-4
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2188A>C
  hgvsp: ENSP00000265318.4:p.Thr730Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2188A>C
  hgvsp: ENSP00000474519.1:p.Thr730Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.949A>C
  hgvsp: ENSP00000289656.3:p.Thr317Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2188A>C
  hgvsp: ENSP00000385636.1:p.Thr730Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2188A>C
  hgvsp: ENSP00000362980.4:p.Thr730Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2188A>C
  hgvsp: ENSP00000362983.1:p.Thr730Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1695A>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr730Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-220430186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430186
    reference: chr 2
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1692A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2185A>G
  hgvsp: ENSP00000385636.1:p.Thr729Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.946A>G
  hgvsp: ENSP00000289656.3:p.Thr316Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2185A>G
  hgvsp: ENSP00000265318.4:p.Thr729Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2185A>G
  hgvsp: ENSP00000362980.4:p.Thr729Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2185A>G
  hgvsp: ENSP00000362983.1:p.Thr729Ala
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2185A>G
  hgvsp: ENSP00000474519.1:p.Thr729Ala
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr729Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-220430190-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430190
    reference: chr 2
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2181C>A
  hgvsp: ENST00000265318.4:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2181C>A
  hgvsp: ENST00000603926.1:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2181C>A
  hgvsp: ENST00000373873.4:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.942C>A
  hgvsp: ENST00000289656.3:c.942C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2181C>A
  hgvsp: ENST00000404537.1:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2181C>A
  hgvsp: ENST00000373876.1:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1688C>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr727Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-220430196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430196
    reference: chr 2
allele count: 13
allele frequency: 1.077764881445863e-4
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1682G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2175G>A
  hgvsp: ENST00000373876.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2175G>A
  hgvsp: ENST00000373873.4:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.936G>A
  hgvsp: ENST00000289656.3:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2175G>A
  hgvsp: ENST00000603926.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2175G>A
  hgvsp: ENST00000404537.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2175G>A
  hgvsp: ENST00000265318.4:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser725Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-220430196-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430196
    reference: chr 2
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2175G>T
  hgvsp: ENST00000603926.1:c.2175G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2175G>T
  hgvsp: ENST00000373876.1:c.2175G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1682G>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2175G>T
  hgvsp: ENST00000265318.4:c.2175G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.936G>T
  hgvsp: ENST00000289656.3:c.936G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2175G>T
  hgvsp: ENST00000373873.4:c.2175G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2175G>T
  hgvsp: ENST00000404537.1:c.2175G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser725Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

2-220430197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430197
    reference: chr 2
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2174C>T
  hgvsp: ENSP00000362983.1:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2174C>T
  hgvsp: ENSP00000362980.4:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1681C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2174C>T
  hgvsp: ENSP00000265318.4:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.935C>T
  hgvsp: ENSP00000289656.3:p.Ser312Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2174C>T
  hgvsp: ENSP00000474519.1:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2174C>T
  hgvsp: ENSP00000385636.1:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser725Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-220430203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430203
    reference: chr 2
allele count: 104346
allele frequency: 8.654535200053082e-1
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2168G>A
  hgvsp: ENSP00000265318.4:p.Arg723Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2168G>A
  hgvsp: ENSP00000362983.1:p.Arg723Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2168G>A
  hgvsp: ENSP00000362980.4:p.Arg723Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.929G>A
  hgvsp: ENSP00000289656.3:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2168G>A
  hgvsp: ENSP00000385636.1:p.Arg723Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2168G>A
  hgvsp: ENSP00000474519.1:p.Arg723Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1675G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 3674
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 21022
  bin: 9.75e1
  variant carriers: 21018
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 8.25e1
  variant carriers: 4308
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.75e1
  variant carriers: 1624
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 7.25e1
  variant carriers: 4161
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.25e1
  variant carriers: 3260
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 1105
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 756
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 2132
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 2669
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 4388
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 8.75e1
  variant carriers: 4177
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 9.25e1
  variant carriers: 3965
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57812
  bin: 9.75e1
  variant carriers: 57779
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 132
hgvs: p.Arg723Lys
num of homozygotes: 45551
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-220430208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430208
    reference: chr 2
allele count: 2
allele frequency: 1.666139055965611e-5
allele num: 120038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1670G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.924G>A
  hgvsp: ENST00000289656.3:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2163G>A
  hgvsp: ENST00000265318.4:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2163G>A
  hgvsp: ENST00000373876.1:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2163G>A
  hgvsp: ENST00000603926.1:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2163G>A
  hgvsp: ENST00000404537.1:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2163G>A
  hgvsp: ENST00000373873.4:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln721Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-220430210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430210
    reference: chr 2
allele count: 2
allele frequency: 1.667083437526048e-5
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2161C>A
  hgvsp: ENSP00000474519.1:p.Gln721Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2161C>A
  hgvsp: ENSP00000362980.4:p.Gln721Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1668C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2161C>A
  hgvsp: ENSP00000385636.1:p.Gln721Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2161C>A
  hgvsp: ENSP00000362983.1:p.Gln721Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.922C>A
  hgvsp: ENSP00000289656.3:p.Gln308Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2161C>A
  hgvsp: ENSP00000265318.4:p.Gln721Lys
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln721Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-220430224-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430224
    reference: chr 2
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2147A>T
  hgvsp: ENSP00000385636.1:p.His716Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2147A>T
  hgvsp: ENSP00000362983.1:p.His716Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1654A>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2147A>T
  hgvsp: ENSP00000265318.4:p.His716Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2147A>T
  hgvsp: ENSP00000474519.1:p.His716Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.908A>T
  hgvsp: ENSP00000289656.3:p.His303Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2147A>T
  hgvsp: ENSP00000362980.4:p.His716Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His716Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

2-220430226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430226
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430226
    reference: chr 2
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2145G>A
  hgvsp: ENST00000603926.1:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2145G>A
  hgvsp: ENST00000373876.1:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1652G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2145G>A
  hgvsp: ENST00000373873.4:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2145G>A
  hgvsp: ENST00000265318.4:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2145G>A
  hgvsp: ENST00000404537.1:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.906G>A
  hgvsp: ENST00000289656.3:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11402
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val715Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-220430230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430230
    reference: chr 2
allele count: 2
allele frequency: 1.675518992007774e-5
allele num: 119366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1648C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2141C>T
  hgvsp: ENSP00000362983.1:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.902C>T
  hgvsp: ENSP00000289656.3:p.Pro301Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2141C>T
  hgvsp: ENSP00000362980.4:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2141C>T
  hgvsp: ENSP00000474519.1:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2141C>T
  hgvsp: ENSP00000385636.1:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2141C>T
  hgvsp: ENSP00000265318.4:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11383
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro714Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-220430232-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430232
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430230
    reference: chr 2
allele count: 2
allele frequency: 1.676670802454646e-5
allele num: 119284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2137_2138delAG
  hgvsp: ENSP00000474519.1:p.Ser713ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2137_2138delAG
  hgvsp: ENSP00000362980.4:p.Ser713ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.898_899delAG
  hgvsp: ENSP00000289656.3:p.Ser300ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2137_2138delAG
  hgvsp: ENSP00000362983.1:p.Ser713ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2137_2138delAG
  hgvsp: ENSP00000265318.4:p.Ser713ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2137_2138delAG
  hgvsp: ENSP00000385636.1:p.Ser713ProfsTer26
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1644_1645delAG
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser713ProfsTer26
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: GCT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-220430237-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430235
    reference: chr 2
allele count: 64
allele frequency: 5.374808942338378e-4
allele num: 119074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-3_2135-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-3_1642-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-3_2135-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-3_896-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-3_2135-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-3_2135-2delCA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-3_2135-2delCA
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17732
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11392
  bin: 9.75e1
  variant carriers: 63
hgvs: c.2135-3_2135-2delCA
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTG
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-220430239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430239
    reference: chr 2
allele count: 1
allele frequency: 8.414816809438059e-6
allele num: 118838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-3C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-3C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2135-3C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-220430239-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430239
    reference: chr 2
allele count: 1
allele frequency: 8.414816809438059e-6
allele num: 118838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-3C>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-3C>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2135-3C>A
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220430246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430246
    reference: chr 2
allele count: 8
allele frequency: 6.75219446320054e-5
allele num: 118480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-10C>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-10C>G
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-220430249-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430249
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430249
    reference: chr 2
allele count: 2
allele frequency: 1.690731410408142e-5
allele num: 118292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-13T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-13T>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-220430256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430256
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430256
    reference: chr 2
allele count: 1
allele frequency: 8.472996559963397e-6
allele num: 118022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-20C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-20C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18468
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-220430257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430257
    reference: chr 2
allele count: 1
allele frequency: 8.475725522104692e-6
allele num: 117984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-21T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-21T>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
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genotype quality: GenotypeQuality
  all individuals: 2055
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 18255
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-220430258-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430258
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430258
    reference: chr 2
allele count: 9
allele frequency: 7.635789795191149e-5
allele num: 117866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-22A>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-22A>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-220430269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430269
    reference: chr 2
allele count: 1
allele frequency: 8.548177528550913e-6
allele num: 116984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-33G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-33G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-220430273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430273
    reference: chr 2
allele count: 1
allele frequency: 8.562963470397836e-6
allele num: 116782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-37G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-37G>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-220430274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430274
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430274
    reference: chr 2
allele count: 10
allele frequency: 8.574270329594952e-5
allele num: 116628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-38G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-38G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-220430274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430274
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430274
    reference: chr 2
allele count: 1
allele frequency: 8.574270329594951e-6
allele num: 116628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-38G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-38G>C
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11231
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-220430275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430275
    reference: chr 2
allele count: 1
allele frequency: 8.585459665510492e-6
allele num: 116476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-39C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-39C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11216
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-220430280-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220430280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220430280
    reference: chr 2
allele count: 3
allele frequency: 2.580290024598765e-5
allele num: 116266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2135-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2135-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2135-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.896-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2135-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2135-44T>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1642-44T>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11606
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-220431505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431505
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431505
    reference: chr 2
allele count: 1
allele frequency: 9.098684330245847e-6
allele num: 109906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2134+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2134+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.895+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2134+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2134+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2134+47G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1641+47G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-220431537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431537
    reference: chr 2
allele count: 1
allele frequency: 9.03897606479138e-6
allele num: 110632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2134+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2134+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2134+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.895+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2134+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2134+15G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1641+15G>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-220431542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431542
    reference: chr 2
allele count: 1
allele frequency: 9.013881377321074e-6
allele num: 110940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2134+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2134+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.895+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2134+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1641+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2134+10A>G
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2134+10A>G
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-220431560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431560
    reference: chr 2
allele count: 1
allele frequency: 8.918378995433789e-6
allele num: 112128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2126C>A
  hgvsp: ENSP00000362983.1:p.Thr709Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2126C>A
  hgvsp: ENSP00000385636.1:p.Thr709Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.887C>A
  hgvsp: ENSP00000289656.3:p.Thr296Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2126C>A
  hgvsp: ENSP00000265318.4:p.Thr709Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2126C>A
  hgvsp: ENSP00000362980.4:p.Thr709Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2126C>A
  hgvsp: ENSP00000474519.1:p.Thr709Lys
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1633C>A
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr709Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-220431563-AGGGCAGCTGAGTCCTGCACGCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431540
    reference: chr 2
allele count: 1
allele frequency: 8.904402336515173e-6
allele num: 112304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsp: ENSP00000362980.4:p.Gly701HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsp: ENSP00000265318.4:p.Gly701HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsp: ENSP00000289656.3:p.Gly288HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsp: ENSP00000474519.1:p.Gly701HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsp: ENSP00000362983.1:p.Gly701HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsp: ENSP00000385636.1:p.Gly701HisfsTer31
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly701HisfsTer31
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: AGGGCAGCTGAGTCCTGCACGCCG
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-220431570-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431570
    reference: chr 2
allele count: 1
allele frequency: 8.835171048911506e-6
allele num: 113184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2116G>C
  hgvsp: ENSP00000362980.4:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.877G>C
  hgvsp: ENSP00000289656.3:p.Ala293Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1623G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2116G>C
  hgvsp: ENSP00000385636.1:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2116G>C
  hgvsp: ENSP00000474519.1:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2116G>C
  hgvsp: ENSP00000362983.1:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2116G>C
  hgvsp: ENSP00000265318.4:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala706Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

2-220431577-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431576
    reference: chr 2
allele count: 1
allele frequency: 8.748141020033243e-6
allele num: 114310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2108delA
  hgvsp: ENSP00000362980.4:p.Gln703ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.869delA
  hgvsp: ENSP00000289656.3:p.Gln290ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2108delA
  hgvsp: ENSP00000362983.1:p.Gln703ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2108delA
  hgvsp: ENSP00000265318.4:p.Gln703ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2108delA
  hgvsp: ENSP00000385636.1:p.Gln703ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1615delA
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2108delA
  hgvsp: ENSP00000474519.1:p.Gln703ArgfsTer16
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln703ArgfsTer16
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: CT
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-220431582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431582
    reference: chr 2
allele count: 15
allele frequency: 1.300457761131919e-4
allele num: 115344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1611G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2104G>A
  hgvsp: ENSP00000362983.1:p.Val702Met
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2104G>A
  hgvsp: ENSP00000474519.1:p.Val702Met
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2104G>A
  hgvsp: ENSP00000385636.1:p.Val702Met
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2104G>A
  hgvsp: ENSP00000265318.4:p.Val702Met
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2104G>A
  hgvsp: ENSP00000362980.4:p.Val702Met
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.865G>A
  hgvsp: ENSP00000289656.3:p.Val289Met
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18538
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val702Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-220431583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431583
    reference: chr 2
allele count: 16
allele frequency: 1.381525549588133e-4
allele num: 115814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.864C>T
  hgvsp: ENST00000289656.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2103C>T
  hgvsp: ENST00000603926.1:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2103C>T
  hgvsp: ENST00000373876.1:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2103C>T
  hgvsp: ENST00000373873.4:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2103C>T
  hgvsp: ENST00000404537.1:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1610C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2103C>T
  hgvsp: ENST00000265318.4:c.2103C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly701Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-220431585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431585
    reference: chr 2
allele count: 11
allele frequency: 9.456833852026341e-5
allele num: 116318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2101G>A
  hgvsp: ENSP00000385636.1:p.Gly701Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1608G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2101G>A
  hgvsp: ENSP00000362980.4:p.Gly701Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2101G>A
  hgvsp: ENSP00000265318.4:p.Gly701Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2101G>A
  hgvsp: ENSP00000474519.1:p.Gly701Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.862G>A
  hgvsp: ENSP00000289656.3:p.Gly288Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2101G>A
  hgvsp: ENSP00000362983.1:p.Gly701Ser
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly701Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-220431586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431586
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431586
    reference: chr 2
allele count: 3
allele frequency: 2.568845047266749e-5
allele num: 116784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2100C>T
  hgvsp: ENST00000265318.4:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2100C>T
  hgvsp: ENST00000404537.1:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2100C>T
  hgvsp: ENST00000373873.4:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2100C>T
  hgvsp: ENST00000373876.1:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2100C>T
  hgvsp: ENST00000603926.1:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.861C>T
  hgvsp: ENST00000289656.3:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1607C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro700Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-220431595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431595
    reference: chr 2
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2091C>T
  hgvsp: ENST00000373876.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.852C>T
  hgvsp: ENST00000289656.3:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1598C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2091C>T
  hgvsp: ENST00000603926.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2091C>T
  hgvsp: ENST00000404537.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2091C>T
  hgvsp: ENST00000373873.4:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2091C>T
  hgvsp: ENST00000265318.4:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe697Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

2-220431600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431600
    reference: chr 2
allele count: 1
allele frequency: 8.41283462049703e-6
allele num: 118866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2086G>A
  hgvsp: ENSP00000474519.1:p.Gly696Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.847G>A
  hgvsp: ENSP00000289656.3:p.Gly283Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2086G>A
  hgvsp: ENSP00000362980.4:p.Gly696Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1593G>A
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2086G>A
  hgvsp: ENSP00000385636.1:p.Gly696Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2086G>A
  hgvsp: ENSP00000362983.1:p.Gly696Ser
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2086G>A
  hgvsp: ENSP00000265318.4:p.Gly696Ser
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly696Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-220431601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431601
    reference: chr 2
allele count: 2
allele frequency: 1.67897918065816e-5
allele num: 119120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2085C>T
  hgvsp: ENST00000603926.1:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2085C>T
  hgvsp: ENST00000265318.4:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2085C>T
  hgvsp: ENST00000373873.4:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1592C>T
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2085C>T
  hgvsp: ENST00000373876.1:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.846C>T
  hgvsp: ENST00000289656.3:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2085C>T
  hgvsp: ENST00000404537.1:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val695Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-220431606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431606
    reference: chr 2
allele count: 1
allele frequency: 8.363581620193032e-6
allele num: 119566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2080C>T
  hgvsp: ENST00000373873.4:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2080C>T
  hgvsp: ENST00000603926.1:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.841C>T
  hgvsp: ENST00000289656.3:c.841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2080C>T
  hgvsp: ENST00000404537.1:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2080C>T
  hgvsp: ENST00000265318.4:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2080C>T
  hgvsp: ENST00000373876.1:c.2080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1587C>T
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu694Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-220431609-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431609
    reference: chr 2
allele count: 5
allele frequency: 4.178366091723492e-5
allele num: 119664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2077G>C
  hgvsp: ENSP00000362980.4:p.Ala693Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1584G>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2077G>C
  hgvsp: ENSP00000265318.4:p.Ala693Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2077G>C
  hgvsp: ENSP00000474519.1:p.Ala693Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2077G>C
  hgvsp: ENSP00000385636.1:p.Ala693Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2077G>C
  hgvsp: ENSP00000362983.1:p.Ala693Pro
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.838G>C
  hgvsp: ENSP00000289656.3:p.Ala280Pro
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala693Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-220431610-ACCGCTGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431603
    reference: chr 2
allele count: 3
allele frequency: 2.504926355165158e-5
allele num: 119764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.830_836delACAGCGG
  hgvsp: ENSP00000289656.3:p.Asp277ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2069_2075delACAGCGG
  hgvsp: ENSP00000362983.1:p.Asp690ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2069_2075delACAGCGG
  hgvsp: ENSP00000362980.4:p.Asp690ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1576_1582delACAGCGG
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2069_2075delACAGCGG
  hgvsp: ENSP00000474519.1:p.Asp690ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2069_2075delACAGCGG
  hgvsp: ENSP00000265318.4:p.Asp690ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2069_2075delACAGCGG
  hgvsp: ENSP00000385636.1:p.Asp690ValfsTer27
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp690ValfsTer27
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: ACCGCTGT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-220431610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220431610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220431610
    reference: chr 2
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000385636
  ensembl transcript: ENST00000404537
  gene symbol: OBSL1
  hgvsc: ENST00000404537.1:c.2076T>C
  hgvsp: ENST00000404537.1:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124006
  ensembl transcript: ENST00000465149
  gene symbol: OBSL1
  hgvsc: ENST00000465149.1:n.1583T>C
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000289656
  ensembl transcript: ENST00000289656
  gene symbol: OBSL1
  hgvsc: ENST00000289656.3:c.837T>C
  hgvsp: ENST00000289656.3:c.837T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000474519
  ensembl transcript: ENST00000603926
  gene symbol: OBSL1
  hgvsc: ENST00000603926.1:c.2076T>C
  hgvsp: ENST00000603926.1:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362983
  ensembl transcript: ENST00000373876
  gene symbol: OBSL1
  hgvsc: ENST00000373876.1:c.2076T>C
  hgvsp: ENST00000373876.1:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000265318
  ensembl transcript: ENST00000265318
  gene symbol: OBSL1
  hgvsc: ENST00000265318.4:c.2076T>C
  hgvsp: ENST00000265318.4:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124006
  ensembl protein: ENSP00000362980
  ensembl transcript: ENST00000373873
  gene symbol: OBSL1
  hgvsc: ENST00000373873.4:c.2076T>C
  hgvsp: ENST00000373873.4:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29092
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly692Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40910
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.5e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.485794e6

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

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7397
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
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: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.823e0

DP
type: SiteQuality
SIO_000300: 1.485673e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 9.75e1
variant carriers: 3

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.706e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.771e-1

DP
type: SiteQuality
SIO_000300: 1.485838e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

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

GenotypeQuality
all individuals: 1641
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40907
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
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: 9824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.486056e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.486552e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 8.27e0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2376
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 920
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 7.75e1
variant carriers: 0

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

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

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: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.486613e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

FS
type: SiteQuality
SIO_000300: 1.4156e1

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -3.0e-4

QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.254e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
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: 9824
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 2.388e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

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

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

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

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

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

East Asian
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allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.565e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.48756e6

MQRankSum
type: SiteQuality
SIO_000300: -1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.316e0

FS
type: SiteQuality
SIO_000300: 1.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 1.383e1

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

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: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 7.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.48765e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.037489812550937e-4
allele num: 9816
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: 66732
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.487722e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.129e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
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allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.51e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.546e1

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.998e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.487673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40620
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GenotypeQuality
all individuals: 0
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variant carriers: 0

Latino
type: Population
allele count: 25
allele frequency: 2.159640635798203e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 324
allele frequency: 4.856115107913669e-3
allele num: 66720
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.529363784665579e-3
allele num: 9808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814333232537043e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.454342984409799e-3
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.327e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.517685e6

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

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

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

VQSLOD
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DP
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QD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.19e-1

FS
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SIO_000300: 1.312e0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

African
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allele count: 1
allele frequency: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.508553e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
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SIO_000300: -1.3e0

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.125e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 5.364e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.508418e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.508129e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.396e1

FS
type: SiteQuality
SIO_000300: 3.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.625e0

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

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
type: Population
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DP
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.3e-3

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499370088187654e-5
allele num: 66676
num of homozygotes: 0

South Asian
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allele num: 16510
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

European (Finnish)
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Other
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African
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Latino
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 1.4632e1

QD
type: SiteQuality
SIO_000300: 1.209e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

DP
type: SiteQuality
SIO_000300: 1.508084e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 9.75e1
variant carriers: 83

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

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

Latino
type: Population
allele count: 9
allele frequency: 7.780082987551867e-4
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 75
allele frequency: 7.656186198448346e-3
allele num: 9796
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.609e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 4.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.512198e6

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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: 8614
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: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.513072e6

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
all individuals: 2168
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7287
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.150504080652904e-4
allele num: 66656
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.083299305839118e-4
allele num: 9796
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.513072e6

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2357
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.512511e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.451e0

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeQuality
all individuals: 2358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.512105e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 6.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
all individuals: 39997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 9.75e1
variant carriers: 13

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.650858446392124e-4
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 5.95e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 1.512869e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 914
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 1.512869e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

GenotypeQuality
all individuals: 1010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2193
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 914
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

FS
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.512958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 40

GenotypeQuality
all individuals: 1215
bin: 6.25e1
variant carriers: 94

GenotypeQuality
all individuals: 223
bin: 6.75e1
variant carriers: 91

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 42

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 14

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 124

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 24

GenotypeQuality
all individuals: 168
bin: 7.75e1
variant carriers: 108

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 83

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 73

GenotypeQuality
all individuals: 120
bin: 7.25e1
variant carriers: 62

East Asian
type: Population
allele count: 7842
allele frequency: 9.110130111524164e-1
allele num: 8608
num of homozygotes: 3568

Latino
type: Population
allele count: 9579
allele frequency: 8.284898806434873e-1
allele num: 11562
num of homozygotes: 3972

Other
type: Population
allele count: 783
allele frequency: 8.738839285714286e-1
allele num: 896
num of homozygotes: 342

European (Non-Finnish)
type: Population
allele count: 60027
allele frequency: 9.012251148545176e-1
allele num: 66606
num of homozygotes: 27067

European (Finnish)
type: Population
allele count: 6094
allele frequency: 9.213788932567282e-1
allele num: 6614
num of homozygotes: 2812

South Asian
type: Population
allele count: 13818
allele frequency: 8.371501272264631e-1
allele num: 16506
num of homozygotes: 5805

African
type: Population
allele count: 6203
allele frequency: 6.345130932896891e-1
allele num: 9776
num of homozygotes: 1985

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.84e-2

FS
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 2.923e1

DP
type: SiteQuality
SIO_000300: 5.208258e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.918e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

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

GenotypeQuality
all individuals: 21411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11448
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016955288722621e-5
allele num: 66292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.049254e6

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 1.545e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

GenotypeQuality
all individuals: 2084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8202
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019050206804939e-5
allele num: 66246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 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: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.047967e6

VQSLOD
type: SiteQuality
SIO_000300: -4.328e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 9.807e0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.878e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.038297e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 1.002e0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21043
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 5226
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variant carriers: 0

GenotypeQuality
all individuals: 3594
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variant carriers: 0

GenotypeQuality
all individuals: 2076
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variant carriers: 0

GenotypeQuality
all individuals: 8104
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variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

DP
type: SiteQuality
SIO_000300: 2.037187e6

QD
type: SiteQuality
SIO_000300: 4.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 8.946999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 2071
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 20873
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515748628247491e-5
allele num: 65974
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 9.728999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 2.372e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 2.031458e6

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.082032063293775e-4
allele num: 9606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

FS
type: SiteQuality
SIO_000300: 6.89e0

DP
type: SiteQuality
SIO_000300: 2.028125e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 62
allele frequency: 7.323411292227734e-3
allele num: 8466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037390274276342e-5
allele num: 65846
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.038e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 2.018917e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20193
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65786
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.191183754333828e-5
allele num: 16152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 2.01145e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e0

QD
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11326
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.191183754333828e-5
allele num: 16152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 2.01145e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 1902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11321
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 5114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.476427386875149e-4
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.542e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 1.993425e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7473
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053341882690605e-5
allele num: 65502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 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: 874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.981136e6

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11309
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.341958396752917e-5
allele num: 15768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.869e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.682e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 1.966895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 9.66e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4191
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530128224745234e-5
allele num: 65354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.963271e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 8.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7160
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variant carriers: 0

GenotypeQuality
all individuals: 906
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GenotypeQuality
all individuals: 11312
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 17594
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2055
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variant carriers: 0

GenotypeQuality
all individuals: 2563
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variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187930624851509e-4
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.089058524173028e-4
allele num: 15720
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

FS
type: SiteQuality
SIO_000300: 2.424e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.955177e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.563e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

GenotypeQuality
all individuals: 861
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
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variant carriers: 0

GenotypeQuality
all individuals: 689
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variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 6377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.533385600418136e-5
allele num: 15306
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.893489e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.98e0

GenotypeQuality
all individuals: 4767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4076
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variant carriers: 0

GenotypeQuality
all individuals: 11228
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2966
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variant carriers: 0

GenotypeQuality
all individuals: 1899
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 1.878667e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.454e0

QD
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 11231
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542781326174828e-5
allele num: 64818
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.876772273761596e-4
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15130
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.873475e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 1.618e0

QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 993
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 1193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6176
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15130
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.873475e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544115376300917e-5
allele num: 64762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.868001e6

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11214
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.011532787984444e-4
allele num: 14914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.852858e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 1890
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.067691650651292e-4
allele num: 9366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63714
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.277e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 2.092188e6

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.786e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.188e0

FS
type: SiteQuality
SIO_000300: 5.463e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 2053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050420168067227e-4
allele num: 9520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
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: 788
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 2.504e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.106967e6

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18533
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
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: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562646498109198e-5
allele num: 63994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

FS
type: SiteQuality
SIO_000300: 2.576e0

DP
type: SiteQuality
SIO_000300: 2.109916e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 22717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2027
bin: 7.25e1
variant carriers: 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: 1.045806316670153e-4
allele num: 9562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.76e0

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 5.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.482e0

DP
type: SiteQuality
SIO_000300: 2.119196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.129085265656382e-5
allele num: 10954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.452e1

FS
type: SiteQuality
SIO_000300: 1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.763e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.611e-1

QD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.121037e6

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11584
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: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

DP
type: SiteQuality
SIO_000300: 2.127987e6

FS
type: SiteQuality
SIO_000300: 5.426e0

QD
type: SiteQuality
SIO_000300: 8.77e0

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

GenotypeQuality
all individuals: 6255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18532
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23431
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

QD
type: SiteQuality
SIO_000300: 1.585e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

DP
type: SiteQuality
SIO_000300: 2.136753e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.244e0

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
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GenotypeQuality
all individuals: 6283
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variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23837
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.604166666666667e-4
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.162330905306972e-4
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.224524936965746e-5
allele num: 65044
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.523461304082876e-4
allele num: 13128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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: 8578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

DP
type: SiteQuality
SIO_000300: 2.146504e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 2083
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variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18530
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 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: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.301672548718736e-4
allele num: 65170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13438
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.15029e6

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 2327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18533
bin: 9.75e1
variant carriers: 11

East Asian
type: Population
allele count: 5
allele frequency: 5.820721769499418e-4
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.626341746446185e-4
allele num: 13788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.1e1

FS
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 2.156017e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18522
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.079002079002079e-4
allele num: 9620
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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: 14134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.308e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.160235e6

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 2136
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25596
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variant carriers: 0

GenotypeQuality
all individuals: 18529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
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: 15212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.768e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 2.17582e6

GenotypeQuality
all individuals: 25756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 2161
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variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
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variant carriers: 0

GenotypeQuality
all individuals: 651
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 18536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 2.182162e6

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
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variant carriers: 0

GenotypeQuality
all individuals: 658
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variant carriers: 0

GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 213
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variant carriers: 0

GenotypeQuality
all individuals: 6592
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variant carriers: 0

GenotypeQuality
all individuals: 2178
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variant carriers: 0

GenotypeQuality
all individuals: 866
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variant carriers: 0

GenotypeQuality
all individuals: 18538
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.267909217700013e-4
allele num: 15774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.185107e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

GenotypeQuality
all individuals: 738
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 2225
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 1421
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.190378e6

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.073e-1

QD
type: SiteQuality
SIO_000300: 2.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

GenotypeQuality
all individuals: 666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26060
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 18540
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
all individuals: 2206
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variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.553554702843159e-5
allele num: 66194
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

DP
type: SiteQuality
SIO_000300: 2.192562e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

FS
type: SiteQuality
SIO_000300: 1.219e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

GenotypeQuality
all individuals: 630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18540
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.52980612429788e-5
allele num: 66228
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: 894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.933e0

DP
type: SiteQuality
SIO_000300: 2.192866e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 6.7e0

FS
type: SiteQuality
SIO_000300: 4.814e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1