1-82432199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432199
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2204C>T
  hgvsp: ENSP00000378344.1:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2243C>T
  hgvsp: ENSP00000359762.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2243C>T
  hgvsp: ENSP00000337306.5:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1846C>T
  hgvsp: ENSP00000397740.1:p.Ala616Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2204C>T
  hgvsp: ENSP00000322270.6:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2204C>T
  hgvsp: ENSP00000359750.1:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2204C>T
  hgvsp: ENSP00000359758.1:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2204C>T
  hgvsp: ENSP00000359748.1:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2243C>T
  hgvsp: ENSP00000359752.2:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2243C>T
  hgvsp: ENSP00000359760.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23876C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2243C>T
  hgvsp: ENSP00000359763.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2243C>T
  hgvsp: ENSP00000271029.4:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2243C>T
  hgvsp: ENSP00000359765.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2204C>T
  hgvsp: ENSP00000353006.2:p.Ala735Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2018C>T
  hgvsp: ENSP00000359756.1:p.Ala673Val
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala735Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-82432200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432200
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2205A>G
  hgvsp: ENST00000370713.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2205A>G
  hgvsp: ENST00000359929.3:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2205A>G
  hgvsp: ENST00000370715.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23875A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2019A>G
  hgvsp: ENST00000370721.1:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1847A>G
  hgvsp: ENST00000449420.1:c.1847A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2244A>G
  hgvsp: ENST00000370728.1:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2205A>G
  hgvsp: ENST00000370723.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2244A>G
  hgvsp: ENST00000335786.5:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2244A>G
  hgvsp: ENST00000370717.2:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2244A>G
  hgvsp: ENST00000370727.1:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2244A>G
  hgvsp: ENST00000370730.1:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2244A>G
  hgvsp: ENST00000271029.4:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2205A>G
  hgvsp: ENST00000319517.6:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2205A>G
  hgvsp: ENST00000394879.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2244A>G
  hgvsp: ENST00000370725.1:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala735Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-82432212-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432212
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2256C>G
  hgvsp: ENSP00000359762.1:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2217C>G
  hgvsp: ENSP00000353006.2:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2217C>G
  hgvsp: ENSP00000322270.6:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2256C>G
  hgvsp: ENSP00000359765.1:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2031C>G
  hgvsp: ENSP00000359756.1:p.His677Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2217C>G
  hgvsp: ENSP00000359748.1:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2256C>G
  hgvsp: ENSP00000271029.4:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2256C>G
  hgvsp: ENSP00000359760.1:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1859C>G
  hgvsp: ENSP00000397740.1:p.His620Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2256C>G
  hgvsp: ENSP00000337306.5:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2217C>G
  hgvsp: ENSP00000359758.1:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2256C>G
  hgvsp: ENSP00000359752.2:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2256C>G
  hgvsp: ENSP00000359763.1:p.His752Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2217C>G
  hgvsp: ENSP00000378344.1:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2217C>G
  hgvsp: ENSP00000359750.1:p.His739Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23863C>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His739Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-82432212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432212
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2256C>T
  hgvsp: ENST00000370728.1:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23863C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2256C>T
  hgvsp: ENST00000370717.2:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2217C>T
  hgvsp: ENST00000370723.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2256C>T
  hgvsp: ENST00000271029.4:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2256C>T
  hgvsp: ENST00000335786.5:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2217C>T
  hgvsp: ENST00000394879.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2217C>T
  hgvsp: ENST00000370715.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2256C>T
  hgvsp: ENST00000370727.1:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2031C>T
  hgvsp: ENST00000370721.1:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2217C>T
  hgvsp: ENST00000319517.6:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2217C>T
  hgvsp: ENST00000370713.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1859C>T
  hgvsp: ENST00000449420.1:c.1859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2256C>T
  hgvsp: ENST00000370730.1:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2256C>T
  hgvsp: ENST00000370725.1:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2217C>T
  hgvsp: ENST00000359929.3:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His739His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-82432215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432215
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2259C>T
  hgvsp: ENST00000370725.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2220C>T
  hgvsp: ENST00000359929.3:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2034C>T
  hgvsp: ENST00000370721.1:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2259C>T
  hgvsp: ENST00000271029.4:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1862C>T
  hgvsp: ENST00000449420.1:c.1862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2259C>T
  hgvsp: ENST00000370717.2:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2220C>T
  hgvsp: ENST00000319517.6:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2259C>T
  hgvsp: ENST00000370728.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2259C>T
  hgvsp: ENST00000335786.5:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2220C>T
  hgvsp: ENST00000370713.1:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2220C>T
  hgvsp: ENST00000370723.1:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2259C>T
  hgvsp: ENST00000370727.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2220C>T
  hgvsp: ENST00000394879.1:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2220C>T
  hgvsp: ENST00000370715.1:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23860C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2259C>T
  hgvsp: ENST00000370730.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val740Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-82432221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432221
    reference: chr 1
allele count: 106
allele frequency: 8.731322383486268e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2265A>G
  hgvsp: ENST00000370728.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2265A>G
  hgvsp: ENST00000271029.4:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2226A>G
  hgvsp: ENST00000370723.1:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2265A>G
  hgvsp: ENST00000370717.2:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2265A>G
  hgvsp: ENST00000370727.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2265A>G
  hgvsp: ENST00000370725.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23854A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2265A>G
  hgvsp: ENST00000335786.5:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2226A>G
  hgvsp: ENST00000370715.1:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1868A>G
  hgvsp: ENST00000449420.1:c.1868A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2226A>G
  hgvsp: ENST00000370713.1:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2226A>G
  hgvsp: ENST00000359929.3:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2265A>G
  hgvsp: ENST00000370730.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2226A>G
  hgvsp: ENST00000394879.1:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2226A>G
  hgvsp: ENST00000319517.6:c.2226A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2040A>G
  hgvsp: ENST00000370721.1:c.2040A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser742Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-82432230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432230
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2274C>A
  hgvsp: ENST00000335786.5:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2274C>A
  hgvsp: ENST00000370728.1:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23845C>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2274C>A
  hgvsp: ENST00000370727.1:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2274C>A
  hgvsp: ENST00000370717.2:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2274C>A
  hgvsp: ENST00000370725.1:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2235C>A
  hgvsp: ENST00000370715.1:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2235C>A
  hgvsp: ENST00000370713.1:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2235C>A
  hgvsp: ENST00000319517.6:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2235C>A
  hgvsp: ENST00000359929.3:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1877C>A
  hgvsp: ENST00000449420.1:c.1877C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2235C>A
  hgvsp: ENST00000394879.1:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2049C>A
  hgvsp: ENST00000370721.1:c.2049C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2274C>A
  hgvsp: ENST00000271029.4:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2274C>A
  hgvsp: ENST00000370730.1:c.2274C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2235C>A
  hgvsp: ENST00000370723.1:c.2235C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile745Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

1-82432239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432239
    reference: chr 1
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2283G>A
  hgvsp: ENST00000271029.4:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2283G>A
  hgvsp: ENST00000370730.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2244G>A
  hgvsp: ENST00000370723.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2283G>A
  hgvsp: ENST00000370727.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2244G>A
  hgvsp: ENST00000370713.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1886G>A
  hgvsp: ENST00000449420.1:c.1886G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2244G>A
  hgvsp: ENST00000319517.6:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2283G>A
  hgvsp: ENST00000370728.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2283G>A
  hgvsp: ENST00000370717.2:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2244G>A
  hgvsp: ENST00000394879.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2283G>A
  hgvsp: ENST00000335786.5:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2244G>A
  hgvsp: ENST00000359929.3:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2244G>A
  hgvsp: ENST00000370715.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23836G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2058G>A
  hgvsp: ENST00000370721.1:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2283G>A
  hgvsp: ENST00000370725.1:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu748Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-82432242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432242
    reference: chr 1
allele count: 112
allele frequency: 9.226612185718522e-4
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2286C>T
  hgvsp: ENST00000370717.2:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2286C>T
  hgvsp: ENST00000370728.1:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2247C>T
  hgvsp: ENST00000394879.1:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1889C>T
  hgvsp: ENST00000449420.1:c.1889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2247C>T
  hgvsp: ENST00000370715.1:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2247C>T
  hgvsp: ENST00000359929.3:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2061C>T
  hgvsp: ENST00000370721.1:c.2061C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2286C>T
  hgvsp: ENST00000370730.1:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2247C>T
  hgvsp: ENST00000319517.6:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2286C>T
  hgvsp: ENST00000370727.1:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2247C>T
  hgvsp: ENST00000370713.1:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2286C>T
  hgvsp: ENST00000335786.5:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2286C>T
  hgvsp: ENST00000370725.1:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2247C>T
  hgvsp: ENST00000370723.1:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2286C>T
  hgvsp: ENST00000271029.4:c.2286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23833C>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser749Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

1-82432247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432247
    reference: chr 1
allele count: 5
allele frequency: 4.119294776734223e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1894G>A
  hgvsp: ENSP00000397740.1:p.Arg632Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2252G>A
  hgvsp: ENSP00000353006.2:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2291G>A
  hgvsp: ENSP00000359765.1:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2252G>A
  hgvsp: ENSP00000322270.6:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2291G>A
  hgvsp: ENSP00000359752.2:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2291G>A
  hgvsp: ENSP00000337306.5:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2291G>A
  hgvsp: ENSP00000359762.1:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2252G>A
  hgvsp: ENSP00000359750.1:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2066G>A
  hgvsp: ENSP00000359756.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2291G>A
  hgvsp: ENSP00000271029.4:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2291G>A
  hgvsp: ENSP00000359760.1:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2252G>A
  hgvsp: ENSP00000378344.1:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2252G>A
  hgvsp: ENSP00000359748.1:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23828G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2252G>A
  hgvsp: ENSP00000359758.1:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2291G>A
  hgvsp: ENSP00000359763.1:p.Arg764Gln
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg751Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-82432248-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432248
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2292A>C
  hgvsp: ENST00000370725.1:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2292A>C
  hgvsp: ENST00000370728.1:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2292A>C
  hgvsp: ENST00000335786.5:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2253A>C
  hgvsp: ENST00000319517.6:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2292A>C
  hgvsp: ENST00000370730.1:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1895A>C
  hgvsp: ENST00000449420.1:c.1895A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23827A>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2292A>C
  hgvsp: ENST00000370717.2:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2253A>C
  hgvsp: ENST00000359929.3:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2253A>C
  hgvsp: ENST00000370713.1:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2292A>C
  hgvsp: ENST00000271029.4:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2253A>C
  hgvsp: ENST00000370715.1:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2253A>C
  hgvsp: ENST00000370723.1:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2253A>C
  hgvsp: ENST00000394879.1:c.2253A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2067A>C
  hgvsp: ENST00000370721.1:c.2067A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2292A>C
  hgvsp: ENST00000370727.1:c.2292A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg751Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-82432254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432254
    reference: chr 1
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2259C>T
  hgvsp: ENST00000370723.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2298C>T
  hgvsp: ENST00000370730.1:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2259C>T
  hgvsp: ENST00000394879.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2259C>T
  hgvsp: ENST00000370713.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2298C>T
  hgvsp: ENST00000271029.4:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2298C>T
  hgvsp: ENST00000370727.1:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2259C>T
  hgvsp: ENST00000319517.6:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2073C>T
  hgvsp: ENST00000370721.1:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1901C>T
  hgvsp: ENST00000449420.1:c.1901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2298C>T
  hgvsp: ENST00000335786.5:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2259C>T
  hgvsp: ENST00000370715.1:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2298C>T
  hgvsp: ENST00000370717.2:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2298C>T
  hgvsp: ENST00000370728.1:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2298C>T
  hgvsp: ENST00000370725.1:c.2298C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23821C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2259C>T
  hgvsp: ENST00000359929.3:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr753Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-82432257-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432257
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2301G>T
  hgvsp: ENST00000335786.5:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2301G>T
  hgvsp: ENST00000370728.1:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2301G>T
  hgvsp: ENST00000370725.1:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2262G>T
  hgvsp: ENST00000370723.1:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2262G>T
  hgvsp: ENST00000319517.6:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2301G>T
  hgvsp: ENST00000271029.4:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2301G>T
  hgvsp: ENST00000370727.1:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2301G>T
  hgvsp: ENST00000370730.1:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2262G>T
  hgvsp: ENST00000370713.1:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2262G>T
  hgvsp: ENST00000359929.3:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1904G>T
  hgvsp: ENST00000449420.1:c.1904G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2301G>T
  hgvsp: ENST00000370717.2:c.2301G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23818G>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2076G>T
  hgvsp: ENST00000370721.1:c.2076G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2262G>T
  hgvsp: ENST00000394879.1:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2262G>T
  hgvsp: ENST00000370715.1:c.2262G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu754Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-82432270-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432269
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2319delT
  hgvsp: ENSP00000359760.1:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2319delT
  hgvsp: ENSP00000271029.4:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23800delT
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1922delT
  hgvsp: ENSP00000397740.1:p.Phe641LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2319delT
  hgvsp: ENSP00000337306.5:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2280delT
  hgvsp: ENSP00000359748.1:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2319delT
  hgvsp: ENSP00000359763.1:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2280delT
  hgvsp: ENSP00000322270.6:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2094delT
  hgvsp: ENSP00000359756.1:p.Phe698LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2280delT
  hgvsp: ENSP00000378344.1:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2319delT
  hgvsp: ENSP00000359752.2:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2319delT
  hgvsp: ENSP00000359765.1:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2280delT
  hgvsp: ENSP00000359750.1:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2319delT
  hgvsp: ENSP00000359762.1:p.Phe773LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2280delT
  hgvsp: ENSP00000359758.1:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2280delT
  hgvsp: ENSP00000353006.2:p.Phe760LeufsTer26
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe760LeufsTer26
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: CT
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-82432276-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432276
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2281A>C
  hgvsp: ENSP00000359758.1:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1923A>C
  hgvsp: ENSP00000397740.1:p.Thr642Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2281A>C
  hgvsp: ENSP00000359748.1:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2281A>C
  hgvsp: ENSP00000378344.1:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2320A>C
  hgvsp: ENSP00000359752.2:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2281A>C
  hgvsp: ENSP00000353006.2:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2320A>C
  hgvsp: ENSP00000337306.5:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2320A>C
  hgvsp: ENSP00000359765.1:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2281A>C
  hgvsp: ENSP00000322270.6:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2320A>C
  hgvsp: ENSP00000271029.4:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2320A>C
  hgvsp: ENSP00000359760.1:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2320A>C
  hgvsp: ENSP00000359762.1:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2281A>C
  hgvsp: ENSP00000359750.1:p.Thr761Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2095A>C
  hgvsp: ENSP00000359756.1:p.Thr699Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2320A>C
  hgvsp: ENSP00000359763.1:p.Thr774Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23799A>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr761Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-82432283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432283
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23792C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2327C>T
  hgvsp: ENSP00000337306.5:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2327C>T
  hgvsp: ENSP00000359763.1:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2288C>T
  hgvsp: ENSP00000359748.1:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2327C>T
  hgvsp: ENSP00000271029.4:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1930C>T
  hgvsp: ENSP00000397740.1:p.Pro644Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2288C>T
  hgvsp: ENSP00000359758.1:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2288C>T
  hgvsp: ENSP00000353006.2:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2327C>T
  hgvsp: ENSP00000359760.1:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2102C>T
  hgvsp: ENSP00000359756.1:p.Pro701Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2327C>T
  hgvsp: ENSP00000359752.2:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2288C>T
  hgvsp: ENSP00000322270.6:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2288C>T
  hgvsp: ENSP00000378344.1:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2288C>T
  hgvsp: ENSP00000359750.1:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2327C>T
  hgvsp: ENSP00000359762.1:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2327C>T
  hgvsp: ENSP00000359765.1:p.Pro776Leu
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro763Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-82432286-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432286
    reference: chr 1
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1933A>C
  hgvsp: ENSP00000397740.1:p.His645Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2291A>C
  hgvsp: ENSP00000353006.2:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2291A>C
  hgvsp: ENSP00000359750.1:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2291A>C
  hgvsp: ENSP00000322270.6:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2105A>C
  hgvsp: ENSP00000359756.1:p.His702Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2291A>C
  hgvsp: ENSP00000378344.1:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2330A>C
  hgvsp: ENSP00000359762.1:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2330A>C
  hgvsp: ENSP00000337306.5:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2330A>C
  hgvsp: ENSP00000359760.1:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2330A>C
  hgvsp: ENSP00000359752.2:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2291A>C
  hgvsp: ENSP00000359758.1:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2330A>C
  hgvsp: ENSP00000271029.4:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2291A>C
  hgvsp: ENSP00000359748.1:p.His764Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2330A>C
  hgvsp: ENSP00000359765.1:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23789A>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2330A>C
  hgvsp: ENSP00000359763.1:p.His777Pro
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His764Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-82432289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432289
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2294T>C
  hgvsp: ENSP00000359758.1:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2333T>C
  hgvsp: ENSP00000359765.1:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23786T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2333T>C
  hgvsp: ENSP00000359762.1:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1936T>C
  hgvsp: ENSP00000397740.1:p.Ile646Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2333T>C
  hgvsp: ENSP00000359752.2:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2294T>C
  hgvsp: ENSP00000359748.1:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2294T>C
  hgvsp: ENSP00000378344.1:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2333T>C
  hgvsp: ENSP00000337306.5:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2294T>C
  hgvsp: ENSP00000359750.1:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2333T>C
  hgvsp: ENSP00000271029.4:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2333T>C
  hgvsp: ENSP00000359760.1:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2294T>C
  hgvsp: ENSP00000322270.6:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2294T>C
  hgvsp: ENSP00000353006.2:p.Ile765Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2333T>C
  hgvsp: ENSP00000359763.1:p.Ile778Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2108T>C
  hgvsp: ENSP00000359756.1:p.Ile703Thr
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile765Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-82432307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432307
    reference: chr 1
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23768T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+14T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+14T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-82432309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432309
    reference: chr 1
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23766C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+16C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+16C>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-82432315-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432315
    reference: chr 1
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23760A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+22A>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-82432318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432318
    reference: chr 1
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23757T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+25T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-82432326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432326
    reference: chr 1
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23749G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+33G>A
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-82432337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432337
    reference: chr 1
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23738C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+44C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+44C>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-82432337-CAGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432333
    reference: chr 1
allele count: 2
allele frequency: 1.659145208388638e-5
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+51_1940+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23731_1106-23728delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+51_2112+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+51_2298+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+51_2337+54delAAAG
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CAGAA
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

1-82432339-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82432339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82432339
    reference: chr 1
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1940+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2112+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-23736G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2337+46G>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2298+46G>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-82433673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433673
    reference: chr 1
allele count: 1
allele frequency: 8.344737808338063e-6
allele num: 119836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22402T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-37T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-37T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14503
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-82433682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433682
    reference: chr 1
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-28A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22393A>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-82433688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433688
    reference: chr 1
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22387A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-22A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-22A>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

1-82433692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433692
    reference: chr 1
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22383T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-18T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-18T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-82433694-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433694
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22381T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-16T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-16T>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-82433699-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433699
    reference: chr 1
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22376T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1941-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2338-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2113-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2299-11T>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-82433717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433717
    reference: chr 1
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2345A>G
  hgvsp: ENSP00000271029.4:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2306A>G
  hgvsp: ENSP00000322270.6:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2345A>G
  hgvsp: ENSP00000359762.1:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2306A>G
  hgvsp: ENSP00000359748.1:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2345A>G
  hgvsp: ENSP00000337306.5:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2345A>G
  hgvsp: ENSP00000359763.1:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2120A>G
  hgvsp: ENSP00000359756.1:p.Asn707Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2345A>G
  hgvsp: ENSP00000359760.1:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2345A>G
  hgvsp: ENSP00000359752.2:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2306A>G
  hgvsp: ENSP00000353006.2:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2306A>G
  hgvsp: ENSP00000359750.1:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1948A>G
  hgvsp: ENSP00000397740.1:p.Asn650Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22358A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2345A>G
  hgvsp: ENSP00000359765.1:p.Asn782Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2306A>G
  hgvsp: ENSP00000359758.1:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2306A>G
  hgvsp: ENSP00000378344.1:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn769Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

1-82433730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433730
    reference: chr 1
allele count: 9
allele frequency: 7.419743112005144e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2358A>G
  hgvsp: ENST00000370730.1:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2319A>G
  hgvsp: ENST00000370723.1:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2358A>G
  hgvsp: ENST00000370727.1:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2133A>G
  hgvsp: ENST00000370721.1:c.2133A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2319A>G
  hgvsp: ENST00000359929.3:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2358A>G
  hgvsp: ENST00000370725.1:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2319A>G
  hgvsp: ENST00000394879.1:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2358A>G
  hgvsp: ENST00000271029.4:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2358A>G
  hgvsp: ENST00000335786.5:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2319A>G
  hgvsp: ENST00000370713.1:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2319A>G
  hgvsp: ENST00000370715.1:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1961A>G
  hgvsp: ENST00000449420.1:c.1961A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2358A>G
  hgvsp: ENST00000370717.2:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2319A>G
  hgvsp: ENST00000319517.6:c.2319A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22345A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2358A>G
  hgvsp: ENST00000370728.1:c.2358A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala773Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-82433736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433736
    reference: chr 1
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2364C>T
  hgvsp: ENST00000370730.1:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2325C>T
  hgvsp: ENST00000359929.3:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2325C>T
  hgvsp: ENST00000394879.1:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2139C>T
  hgvsp: ENST00000370721.1:c.2139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22339C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2364C>T
  hgvsp: ENST00000370717.2:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2364C>T
  hgvsp: ENST00000271029.4:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2325C>T
  hgvsp: ENST00000370715.1:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2364C>T
  hgvsp: ENST00000370727.1:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2325C>T
  hgvsp: ENST00000370723.1:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2325C>T
  hgvsp: ENST00000370713.1:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2364C>T
  hgvsp: ENST00000370728.1:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2364C>T
  hgvsp: ENST00000335786.5:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1967C>T
  hgvsp: ENST00000449420.1:c.1967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2364C>T
  hgvsp: ENST00000370725.1:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2325C>T
  hgvsp: ENST00000319517.6:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys775Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-82433748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433748
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1979C>T
  hgvsp: ENST00000449420.1:c.1979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2376C>T
  hgvsp: ENST00000370727.1:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2376C>T
  hgvsp: ENST00000370725.1:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2376C>T
  hgvsp: ENST00000335786.5:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22327C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2337C>T
  hgvsp: ENST00000370713.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2376C>T
  hgvsp: ENST00000370728.1:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2337C>T
  hgvsp: ENST00000319517.6:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2151C>T
  hgvsp: ENST00000370721.1:c.2151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2337C>T
  hgvsp: ENST00000359929.3:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2337C>T
  hgvsp: ENST00000370723.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2337C>T
  hgvsp: ENST00000370715.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2376C>T
  hgvsp: ENST00000370717.2:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2337C>T
  hgvsp: ENST00000394879.1:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2376C>T
  hgvsp: ENST00000370730.1:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2376C>T
  hgvsp: ENST00000271029.4:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn779Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-82433751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433751
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2340C>T
  hgvsp: ENST00000370715.1:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2379C>T
  hgvsp: ENST00000370730.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1982C>T
  hgvsp: ENST00000449420.1:c.1982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2379C>T
  hgvsp: ENST00000370727.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2340C>T
  hgvsp: ENST00000370713.1:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2340C>T
  hgvsp: ENST00000370723.1:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2340C>T
  hgvsp: ENST00000319517.6:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2340C>T
  hgvsp: ENST00000394879.1:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2379C>T
  hgvsp: ENST00000370728.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2154C>T
  hgvsp: ENST00000370721.1:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2379C>T
  hgvsp: ENST00000370725.1:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2379C>T
  hgvsp: ENST00000335786.5:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2379C>T
  hgvsp: ENST00000370717.2:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22324C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2340C>T
  hgvsp: ENST00000359929.3:c.2340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2379C>T
  hgvsp: ENST00000271029.4:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr780Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-82433754-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433754
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2382A>G
  hgvsp: ENST00000370725.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2382A>G
  hgvsp: ENST00000335786.5:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2343A>G
  hgvsp: ENST00000370713.1:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.1985A>G
  hgvsp: ENST00000449420.1:c.1985A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2343A>G
  hgvsp: ENST00000370723.1:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2382A>G
  hgvsp: ENST00000370730.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2382A>G
  hgvsp: ENST00000271029.4:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2343A>G
  hgvsp: ENST00000394879.1:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2382A>G
  hgvsp: ENST00000370728.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2157A>G
  hgvsp: ENST00000370721.1:c.2157A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2382A>G
  hgvsp: ENST00000370727.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22321A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2343A>G
  hgvsp: ENST00000319517.6:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2382A>G
  hgvsp: ENST00000370717.2:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2343A>G
  hgvsp: ENST00000359929.3:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2343A>G
  hgvsp: ENST00000370715.1:c.2343A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser781Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-82433779-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433779
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2407T>A
  hgvsp: ENSP00000271029.4:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2368T>A
  hgvsp: ENSP00000322270.6:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2368T>A
  hgvsp: ENSP00000378344.1:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2407T>A
  hgvsp: ENSP00000359760.1:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2407T>A
  hgvsp: ENSP00000337306.5:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2407T>A
  hgvsp: ENSP00000359752.2:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2010T>A
  hgvsp: ENSP00000397740.1:p.Ser671Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2182T>A
  hgvsp: ENSP00000359756.1:p.Ser728Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2407T>A
  hgvsp: ENSP00000359762.1:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2407T>A
  hgvsp: ENSP00000359763.1:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2407T>A
  hgvsp: ENSP00000359765.1:p.Ser803Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2368T>A
  hgvsp: ENSP00000359750.1:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2368T>A
  hgvsp: ENSP00000359748.1:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2368T>A
  hgvsp: ENSP00000353006.2:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22296T>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2368T>A
  hgvsp: ENSP00000359758.1:p.Ser790Thr
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser790Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-82433786-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433786
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2414A>C
  hgvsp: ENSP00000337306.5:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2414A>C
  hgvsp: ENSP00000359752.2:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2375A>C
  hgvsp: ENSP00000322270.6:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2414A>C
  hgvsp: ENSP00000359763.1:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2375A>C
  hgvsp: ENSP00000353006.2:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2017A>C
  hgvsp: ENSP00000397740.1:p.Gln673Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2414A>C
  hgvsp: ENSP00000359762.1:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2375A>C
  hgvsp: ENSP00000359750.1:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2414A>C
  hgvsp: ENSP00000359765.1:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2414A>C
  hgvsp: ENSP00000359760.1:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2375A>C
  hgvsp: ENSP00000359748.1:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22289A>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2414A>C
  hgvsp: ENSP00000271029.4:p.Gln805Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2189A>C
  hgvsp: ENSP00000359756.1:p.Gln730Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2375A>C
  hgvsp: ENSP00000359758.1:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2375A>C
  hgvsp: ENSP00000378344.1:p.Gln792Pro
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln792Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-82433801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433801
    reference: chr 1
allele count: 14
allele frequency: 1.153364529097739e-4
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2429T>C
  hgvsp: ENSP00000359760.1:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2429T>C
  hgvsp: ENSP00000359763.1:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2390T>C
  hgvsp: ENSP00000359758.1:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2390T>C
  hgvsp: ENSP00000353006.2:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2390T>C
  hgvsp: ENSP00000322270.6:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2429T>C
  hgvsp: ENSP00000359752.2:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2390T>C
  hgvsp: ENSP00000359748.1:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2390T>C
  hgvsp: ENSP00000378344.1:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2032T>C
  hgvsp: ENSP00000397740.1:p.Val678Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2429T>C
  hgvsp: ENSP00000359762.1:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2390T>C
  hgvsp: ENSP00000359750.1:p.Val797Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2204T>C
  hgvsp: ENSP00000359756.1:p.Val735Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2429T>C
  hgvsp: ENSP00000271029.4:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2429T>C
  hgvsp: ENSP00000359765.1:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2429T>C
  hgvsp: ENSP00000337306.5:p.Val810Ala
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22274T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val797Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-82433816-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433816
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2444C>G
  hgvsp: ENSP00000359763.1:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2444C>G
  hgvsp: ENSP00000271029.4:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2405C>G
  hgvsp: ENSP00000359750.1:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2047C>G
  hgvsp: ENSP00000397740.1:p.Thr683Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2444C>G
  hgvsp: ENSP00000359762.1:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2444C>G
  hgvsp: ENSP00000359752.2:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2405C>G
  hgvsp: ENSP00000359748.1:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22259C>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2405C>G
  hgvsp: ENSP00000359758.1:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2405C>G
  hgvsp: ENSP00000378344.1:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2444C>G
  hgvsp: ENSP00000359760.1:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2444C>G
  hgvsp: ENSP00000337306.5:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2405C>G
  hgvsp: ENSP00000353006.2:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2405C>G
  hgvsp: ENSP00000322270.6:p.Thr802Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2219C>G
  hgvsp: ENSP00000359756.1:p.Thr740Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2444C>G
  hgvsp: ENSP00000359765.1:p.Thr815Ser
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr802Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

1-82433817-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433817
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2406T>A
  hgvsp: ENST00000370723.1:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2445T>A
  hgvsp: ENST00000370727.1:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2406T>A
  hgvsp: ENST00000359929.3:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2220T>A
  hgvsp: ENST00000370721.1:c.2220T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2048T>A
  hgvsp: ENST00000449420.1:c.2048T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2445T>A
  hgvsp: ENST00000370728.1:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2445T>A
  hgvsp: ENST00000335786.5:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2445T>A
  hgvsp: ENST00000370730.1:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2445T>A
  hgvsp: ENST00000370717.2:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2406T>A
  hgvsp: ENST00000319517.6:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2406T>A
  hgvsp: ENST00000394879.1:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2445T>A
  hgvsp: ENST00000271029.4:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2406T>A
  hgvsp: ENST00000370713.1:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2406T>A
  hgvsp: ENST00000370715.1:c.2406T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22258T>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2445T>A
  hgvsp: ENST00000370725.1:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr802Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-82433819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433819
    reference: chr 1
allele count: 49
allele frequency: 4.03737455300496e-4
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2408G>A
  hgvsp: ENSP00000353006.2:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2447G>A
  hgvsp: ENSP00000337306.5:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2447G>A
  hgvsp: ENSP00000359760.1:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2447G>A
  hgvsp: ENSP00000271029.4:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2050G>A
  hgvsp: ENSP00000397740.1:p.Arg684Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2222G>A
  hgvsp: ENSP00000359756.1:p.Arg741Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2447G>A
  hgvsp: ENSP00000359762.1:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22256G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2447G>A
  hgvsp: ENSP00000359752.2:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2408G>A
  hgvsp: ENSP00000359750.1:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2408G>A
  hgvsp: ENSP00000378344.1:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2447G>A
  hgvsp: ENSP00000359765.1:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2408G>A
  hgvsp: ENSP00000322270.6:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2447G>A
  hgvsp: ENSP00000359763.1:p.Arg816Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2408G>A
  hgvsp: ENSP00000359748.1:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2408G>A
  hgvsp: ENSP00000359758.1:p.Arg803Gln
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg803Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-82433819-G-GAACAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433825
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: GAACAAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2448_2453dupAACAAC
  hgvsp: ENSP00000271029.4:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2448_2453dupAACAAC
  hgvsp: ENSP00000359752.2:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2448_2453dupAACAAC
  hgvsp: ENSP00000359760.1:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2409_2414dupAACAAC
  hgvsp: ENSP00000359750.1:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2448_2453dupAACAAC
  hgvsp: ENSP00000337306.5:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2051_2056dupAACAAC
  hgvsp: ENSP00000397740.1:p.Thr685_Thr686dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2448_2453dupAACAAC
  hgvsp: ENSP00000359765.1:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2409_2414dupAACAAC
  hgvsp: ENSP00000322270.6:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2448_2453dupAACAAC
  hgvsp: ENSP00000359763.1:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2223_2228dupAACAAC
  hgvsp: ENSP00000359756.1:p.Thr742_Thr743dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2409_2414dupAACAAC
  hgvsp: ENSP00000359758.1:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2409_2414dupAACAAC
  hgvsp: ENSP00000359748.1:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2409_2414dupAACAAC
  hgvsp: ENSP00000353006.2:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2409_2414dupAACAAC
  hgvsp: ENSP00000378344.1:p.Thr804_Thr805dup
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2448_2453dupAACAAC
  hgvsp: ENSP00000359762.1:p.Thr817_Thr818dup
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr804_Thr805dup
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-82433825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433825
    reference: chr 1
allele count: 5
allele frequency: 4.119905736556747e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2453C>T
  hgvsp: ENSP00000359760.1:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2414C>T
  hgvsp: ENSP00000359750.1:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2228C>T
  hgvsp: ENSP00000359756.1:p.Thr743Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2056C>T
  hgvsp: ENSP00000397740.1:p.Thr686Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2453C>T
  hgvsp: ENSP00000337306.5:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2453C>T
  hgvsp: ENSP00000359752.2:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2414C>T
  hgvsp: ENSP00000359758.1:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2414C>T
  hgvsp: ENSP00000378344.1:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2453C>T
  hgvsp: ENSP00000271029.4:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2414C>T
  hgvsp: ENSP00000322270.6:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2453C>T
  hgvsp: ENSP00000359763.1:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2453C>T
  hgvsp: ENSP00000359762.1:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2414C>T
  hgvsp: ENSP00000353006.2:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2414C>T
  hgvsp: ENSP00000359748.1:p.Thr805Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22250C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2453C>T
  hgvsp: ENSP00000359765.1:p.Thr818Met
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr805Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-82433826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433826
    reference: chr 1
allele count: 21
allele frequency: 1.730417442607822e-4
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22249G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2415G>A
  hgvsp: ENST00000370723.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2415G>A
  hgvsp: ENST00000319517.6:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2415G>A
  hgvsp: ENST00000370713.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2454G>A
  hgvsp: ENST00000370728.1:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2454G>A
  hgvsp: ENST00000370717.2:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2057G>A
  hgvsp: ENST00000449420.1:c.2057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2454G>A
  hgvsp: ENST00000335786.5:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2454G>A
  hgvsp: ENST00000370725.1:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2415G>A
  hgvsp: ENST00000370715.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2415G>A
  hgvsp: ENST00000359929.3:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2454G>A
  hgvsp: ENST00000271029.4:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2415G>A
  hgvsp: ENST00000394879.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2454G>A
  hgvsp: ENST00000370727.1:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2229G>A
  hgvsp: ENST00000370721.1:c.2229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2454G>A
  hgvsp: ENST00000370730.1:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr805Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-82433849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433849
    reference: chr 1
allele count: 9
allele frequency: 7.42035485785898e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2438A>G
  hgvsp: ENSP00000353006.2:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2477A>G
  hgvsp: ENSP00000337306.5:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2438A>G
  hgvsp: ENSP00000359758.1:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2080A>G
  hgvsp: ENSP00000397740.1:p.Asn694Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2252A>G
  hgvsp: ENSP00000359756.1:p.Asn751Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2438A>G
  hgvsp: ENSP00000378344.1:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2438A>G
  hgvsp: ENSP00000359750.1:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2477A>G
  hgvsp: ENSP00000359760.1:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2477A>G
  hgvsp: ENSP00000359765.1:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2438A>G
  hgvsp: ENSP00000359748.1:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2477A>G
  hgvsp: ENSP00000359762.1:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2477A>G
  hgvsp: ENSP00000359752.2:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2477A>G
  hgvsp: ENSP00000359763.1:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22226A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2477A>G
  hgvsp: ENSP00000271029.4:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2438A>G
  hgvsp: ENSP00000322270.6:p.Asn813Ser
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn813Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-82433854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433854
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433854
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2085G>A
  hgvsp: ENSP00000397740.1:p.Ala696Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2443G>A
  hgvsp: ENSP00000359748.1:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2443G>A
  hgvsp: ENSP00000359758.1:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2482G>A
  hgvsp: ENSP00000359760.1:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2482G>A
  hgvsp: ENSP00000359752.2:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2482G>A
  hgvsp: ENSP00000359762.1:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22221G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2482G>A
  hgvsp: ENSP00000337306.5:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2482G>A
  hgvsp: ENSP00000359765.1:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2443G>A
  hgvsp: ENSP00000359750.1:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2443G>A
  hgvsp: ENSP00000353006.2:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2443G>A
  hgvsp: ENSP00000322270.6:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2482G>A
  hgvsp: ENSP00000271029.4:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2482G>A
  hgvsp: ENSP00000359763.1:p.Ala828Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2257G>A
  hgvsp: ENSP00000359756.1:p.Ala753Thr
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2443G>A
  hgvsp: ENSP00000378344.1:p.Ala815Thr
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala815Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-82433857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433857
    reference: chr 1
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2485A>G
  hgvsp: ENSP00000359760.1:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2446A>G
  hgvsp: ENSP00000359748.1:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2485A>G
  hgvsp: ENSP00000359765.1:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2446A>G
  hgvsp: ENSP00000359750.1:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2485A>G
  hgvsp: ENSP00000337306.5:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2485A>G
  hgvsp: ENSP00000271029.4:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2485A>G
  hgvsp: ENSP00000359762.1:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2088A>G
  hgvsp: ENSP00000397740.1:p.Ile697Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2260A>G
  hgvsp: ENSP00000359756.1:p.Ile754Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2446A>G
  hgvsp: ENSP00000322270.6:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2485A>G
  hgvsp: ENSP00000359763.1:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22218A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2446A>G
  hgvsp: ENSP00000359758.1:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2446A>G
  hgvsp: ENSP00000353006.2:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2485A>G
  hgvsp: ENSP00000359752.2:p.Ile829Val
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2446A>G
  hgvsp: ENSP00000378344.1:p.Ile816Val
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile816Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-82433864-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433863
    reference: chr 1
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2494delG
  hgvsp: ENSP00000359763.1:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2455delG
  hgvsp: ENSP00000322270.6:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2494delG
  hgvsp: ENSP00000271029.4:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2455delG
  hgvsp: ENSP00000359758.1:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2269delG
  hgvsp: ENSP00000359756.1:p.Ala757ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2455delG
  hgvsp: ENSP00000378344.1:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2455delG
  hgvsp: ENSP00000353006.2:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2494delG
  hgvsp: ENSP00000359765.1:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2494delG
  hgvsp: ENSP00000359760.1:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2494delG
  hgvsp: ENSP00000337306.5:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2097delG
  hgvsp: ENSP00000397740.1:p.Ala700ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2455delG
  hgvsp: ENSP00000359748.1:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2494delG
  hgvsp: ENSP00000359752.2:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2494delG
  hgvsp: ENSP00000359762.1:p.Ala832ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22209delG
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2455delG
  hgvsp: ENSP00000359750.1:p.Ala819ProfsTer67
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala819ProfsTer67
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: TG
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

1-82433872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433872
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2500A>G
  hgvsp: ENSP00000271029.4:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2500A>G
  hgvsp: ENSP00000359762.1:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2461A>G
  hgvsp: ENSP00000359750.1:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2500A>G
  hgvsp: ENSP00000359760.1:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2500A>G
  hgvsp: ENSP00000337306.5:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2500A>G
  hgvsp: ENSP00000359763.1:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2500A>G
  hgvsp: ENSP00000359752.2:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2461A>G
  hgvsp: ENSP00000359758.1:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2461A>G
  hgvsp: ENSP00000359748.1:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2103A>G
  hgvsp: ENSP00000397740.1:p.Arg702Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2461A>G
  hgvsp: ENSP00000322270.6:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2461A>G
  hgvsp: ENSP00000353006.2:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22203A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2461A>G
  hgvsp: ENSP00000378344.1:p.Arg821Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2500A>G
  hgvsp: ENSP00000359765.1:p.Arg834Gly
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2275A>G
  hgvsp: ENSP00000359756.1:p.Arg759Gly
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg821Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-82433880-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433880
    reference: chr 1
allele count: 3
allele frequency: 2.4786833234186e-5
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22195T>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2508T>G
  hgvsp: ENSP00000359752.2:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2469T>G
  hgvsp: ENSP00000353006.2:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2469T>G
  hgvsp: ENSP00000359750.1:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2508T>G
  hgvsp: ENSP00000271029.4:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2508T>G
  hgvsp: ENSP00000359762.1:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2469T>G
  hgvsp: ENSP00000378344.1:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2469T>G
  hgvsp: ENSP00000359748.1:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2508T>G
  hgvsp: ENSP00000359760.1:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2508T>G
  hgvsp: ENSP00000359765.1:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2283T>G
  hgvsp: ENSP00000359756.1:p.Ile761Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2508T>G
  hgvsp: ENSP00000337306.5:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2111T>G
  hgvsp: ENSP00000397740.1:p.Ile704Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2469T>G
  hgvsp: ENSP00000359758.1:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2469T>G
  hgvsp: ENSP00000322270.6:p.Ile823Met
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2508T>G
  hgvsp: ENSP00000359763.1:p.Ile836Met
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile823Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-82433892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433892
    reference: chr 1
allele count: 3
allele frequency: 2.482662738542511e-5
allele num: 120838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+9T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22183T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-82433900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433900
    reference: chr 1
allele count: 5
allele frequency: 4.140992513085536e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+17C>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22175C>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-82433904-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433904
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22171T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+21T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+21T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-82433904-T-TTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433906
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: TTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+22_2286+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+22_2114+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+22_2472+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22170_1106-22169dupTA
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+22_2511+23dupTA
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

1-82433907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433907
    reference: chr 1
allele count: 5
allele frequency: 4.143944040179681e-5
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22168G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+24G>A
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-82433908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433908
    reference: chr 1
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+25T>C
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22167T>C
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-82433909-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433909
    reference: chr 1
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+26A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22166A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+26A>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-82433910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433910
    reference: chr 1
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+27G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22165G>A
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+27G>A
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-82433927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433927
    reference: chr 1
allele count: 10
allele frequency: 8.312966565248475e-5
allele num: 120294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22148A>G
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+44A>G
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-82433929-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82433929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82433929
    reference: chr 1
allele count: 7630
allele frequency: 6.350923922090894e-2
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2114+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-22146A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2286+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2511+46A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2472+46A>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 1142
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.75e1
  variant carriers: 816
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.25e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 2.75e1
  variant carriers: 771
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.75e1
  variant carriers: 187
genotype quality: GenotypeQuality
num of homozygotes: 274
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-82434811-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82434811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 82434811
    reference: chr 1
allele count: 7
allele frequency: 5.933309600094933e-5
allele num: 117978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000271029
  ensembl transcript: ENST00000271029
  gene symbol: LPHN2
  hgvsc: ENST00000271029.4:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000337306
  ensembl transcript: ENST00000335786
  gene symbol: LPHN2
  hgvsc: ENST00000335786.5:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359760
  ensembl transcript: ENST00000370725
  gene symbol: LPHN2
  hgvsc: ENST00000370725.1:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359750
  ensembl transcript: ENST00000370715
  gene symbol: LPHN2
  hgvsc: ENST00000370715.1:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000397740
  ensembl transcript: ENST00000449420
  gene symbol: LPHN2
  hgvsc: ENST00000449420.1:c.2115-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000322270
  ensembl transcript: ENST00000319517
  gene symbol: LPHN2
  hgvsc: ENST00000319517.6:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359765
  ensembl transcript: ENST00000370730
  gene symbol: LPHN2
  hgvsc: ENST00000370730.1:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359748
  ensembl transcript: ENST00000370713
  gene symbol: LPHN2
  hgvsc: ENST00000370713.1:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359762
  ensembl transcript: ENST00000370727
  gene symbol: LPHN2
  hgvsc: ENST00000370727.1:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl transcript: ENST00000469377
  gene symbol: LPHN2
  hgvsc: ENST00000469377.2:n.1106-21264A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000353006
  ensembl transcript: ENST00000359929
  gene symbol: LPHN2
  hgvsc: ENST00000359929.3:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359756
  ensembl transcript: ENST00000370721
  gene symbol: LPHN2
  hgvsc: ENST00000370721.1:c.2287-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359752
  ensembl transcript: ENST00000370717
  gene symbol: LPHN2
  hgvsc: ENST00000370717.2:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359758
  ensembl transcript: ENST00000370723
  gene symbol: LPHN2
  hgvsc: ENST00000370723.1:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000378344
  ensembl transcript: ENST00000394879
  gene symbol: LPHN2
  hgvsc: ENST00000394879.1:c.2473-51A>T
  variant of: http://identifiers.org/hgnc/18582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117114
  ensembl protein: ENSP00000359763
  ensembl transcript: ENST00000370728
  gene symbol: LPHN2
  hgvsc: ENST00000370728.1:c.2512-51A>T
  variant of: http://identifiers.org/hgnc/18582
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 288
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3766
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1916
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 9292
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26405
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8187
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.804565e6

QD
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.187e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

GenotypeDepth
all individuals: 3765
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1916
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15113
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9241
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26408
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8186
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9293
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.804593e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.779e0

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeDepth
all individuals: 1916
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25930
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3765
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 6.25e1
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African
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DP
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MQ
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VQSLOD
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MQ
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FS
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QD
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DP
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FS
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VQSLOD
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QD
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DP
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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DP
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East Asian
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European (Non-Finnish)
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African
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South Asian
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MQ
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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African
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European (Finnish)
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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South Asian
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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DP
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

South Asian
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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FS
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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MQ
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.78038e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 1.145e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeDepth
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bin: 7.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.5e0
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
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: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: -4.9e-1

DP
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SIO_000300: 1.777769e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.946e1

ClippingRankSum
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SIO_000300: -5.5e-1

FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
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: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.487e1

MQRankSum
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SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.889712e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 1
allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.905e1

DP
type: SiteQuality
SIO_000300: 1.909679e6

BaseQRankSum
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SIO_000300: 3.9e0

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 3.398e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.214919207872676e-4
allele num: 16462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 5.71e-1

FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
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South Asian
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African
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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FS
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66518
num of homozygotes: 0

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

BaseQRankSum
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MQRankSum
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SIO_000300: -7.6e-1

MQ
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SIO_000300: 5.925e1

InbreedingCoeff
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SIO_000300: 1.3e-3

FS
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: 9.7e-2

DP
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SIO_000300: 1.923687e6

GenotypeDepth
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variant carriers: 1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

Latino
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African
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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: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

South Asian
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num of homozygotes: 0

InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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SIO_000300: 1.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.816860465116279e-4
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Latino
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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QD
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VQSLOD
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variant carriers: 1

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

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

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

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

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

African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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Latino
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BaseQRankSum
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SIO_000300: 3.36e-1

VQSLOD
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FS
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: 7.6e-3

MQ
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SIO_000300: 6.0e1

QD
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ReadPosRankSum
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SIO_000300: 1.31e0

ClippingRankSum
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SIO_000300: -1.231e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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variant carriers: 3

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

European (Finnish)
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: 3.9e-3

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.18e0

FS
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SIO_000300: 2.267e0

BaseQRankSum
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SIO_000300: -1.02e0

InbreedingCoeff
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SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 26

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

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

Latino
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allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 43
allele frequency: 6.44484412470024e-4
allele num: 66720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 10396
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 9.6e-2

FS
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SIO_000300: 1.094e0

ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.64e-2

DP
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SIO_000300: 1.937068e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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 count: 0
allele frequency: 0.0e0
allele num: 8644
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 (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
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SIO_000300: 1.64e-2

MQ
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DP
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SIO_000300: 1.937068e6

MQRankSum
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SIO_000300: 3.27e-1

BaseQRankSum
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SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
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SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
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

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

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.934225e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
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SIO_000300: -9.3e-2

InbreedingCoeff
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MQRankSum
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MQ
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QD
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SIO_000300: 1.323e1

VQSLOD
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SIO_000300: 3.34e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.966227157066852e-3
allele num: 8646
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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DP
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MQ
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BaseQRankSum
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SIO_000300: 2.3e-1

FS
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.349527665317139e-4
allele num: 66690
num of homozygotes: 0

ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.954e1

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.513585893539554e-5
allele num: 66466
num of homozygotes: 0

ClippingRankSum
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MQ
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QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.7e-1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.526040098741646e-5
allele num: 66436
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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VQSLOD
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SIO_000300: 1.56e0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505570611261668e-5
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num of homozygotes: 0

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

African
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allele count: 0
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MQRankSum
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SIO_000300: 1.27e-1

FS
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8608
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European (Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11544
num of homozygotes: 0

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

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.671e0

FS
type: SiteQuality
SIO_000300: 1.401e0

QD
type: SiteQuality
SIO_000300: 1.834e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.915126e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e0

GenotypeDepth
all individuals: 564
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.079e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.915218e6

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 3.054e1

VQSLOD
type: SiteQuality
SIO_000300: -2.944e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11474
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variant carriers: 10

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.007049345417925e-4
allele num: 9930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.357793736044898e-4
allele num: 66284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.896985e6

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

GenotypeDepth
all individuals: 4011
bin: 4.25e1
variant carriers: 1042

GenotypeDepth
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6725
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variant carriers: 1195

GenotypeDepth
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variant carriers: 110

GenotypeDepth
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variant carriers: 41

GenotypeDepth
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variant carriers: 54

GenotypeDepth
all individuals: 173
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variant carriers: 39

GenotypeDepth
all individuals: 453
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variant carriers: 39

GenotypeDepth
all individuals: 441
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variant carriers: 90

GenotypeDepth
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variant carriers: 533

GenotypeQuality
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variant carriers: 29

GenotypeQuality
all individuals: 808
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GenotypeQuality
all individuals: 2780
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variant carriers: 23

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 115
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variant carriers: 2

GenotypeQuality
all individuals: 58
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variant carriers: 2

GenotypeQuality
all individuals: 778
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variant carriers: 9

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 122
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variant carriers: 2

GenotypeQuality
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variant carriers: 7231

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 15

GenotypeQuality
all individuals: 400
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 1899
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variant carriers: 12

GenotypeQuality
all individuals: 3115
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variant carriers: 10

GenotypeQuality
all individuals: 629
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variant carriers: 4

GenotypeQuality
all individuals: 4814
bin: 7.75e1
variant carriers: 18

East Asian
type: Population
allele count: 980
allele frequency: 1.146735314767142e-1
allele num: 8546
num of homozygotes: 51

European (Non-Finnish)
type: Population
allele count: 3577
allele frequency: 5.40169133192389e-2
allele num: 66220
num of homozygotes: 94

Latino
type: Population
allele count: 302
allele frequency: 2.61970853573907e-2
allele num: 11528
num of homozygotes: 3

South Asian
type: Population
allele count: 1448
allele frequency: 8.81207400194742e-2
allele num: 16432
num of homozygotes: 75

Other
type: Population
allele count: 46
allele frequency: 5.111111111111111e-2
allele num: 900
num of homozygotes: 2

African
type: Population
allele count: 810
allele frequency: 8.178513731825525e-2
allele num: 9904
num of homozygotes: 34

European (Finnish)
type: Population
allele count: 467
allele frequency: 7.065052950075643e-2
allele num: 6610
num of homozygotes: 15

DP
type: SiteQuality
SIO_000300: 1.968642e6

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.554e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1